A617T (p.Ala617Thr) variant of KIT (P10721)
A617T (p.Ala617Thr) in KIT (P10721) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Piebaldism; Gastrointestinal stromal tumor. The record also includes structural context.
A617T (p.Ala617Thr) variant details
- p.Ala617Thr
- Ensembl rs2109780026
- Uncertain significance
- Piebaldism; Gastrointestinal stromal tumor
- Missense
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- UniProt: Uncertain significance
- Structural context available