KIT D820E

Variant type

missense mutation

Location

Chromosome 4

Exon

8

Protein change

p.D820E

cDNA change

-

Genomic coordinate

Chromosome 4

FATHMM prediction

-

Variant category

I

Variant description

The D820E mutation occurs within the KIT activation loop (exon 17) and results in an amino acid exchange at codon 820 of aspartic acid (D) (PMID: 22301675).

Variant frequence

This section displays the distribution of mutated samples and tissue types (top 5).

Accoiciated drug