A621T (p.Ala621Thr) variant of KIT (P10721)
A621T (p.Ala621Thr) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Piebaldism; Gastrointestinal stromal tumor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
A621T (p.Ala621Thr) variant details
- p.Ala621Thr
- rs1560418178
- ClinGen CA356908197
- ClinVar RCV000685166
- ClinVar RCV004819229
- Pathogenic/Likely pathogenic
- Piebaldism; Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic/Likely pathogenic (Piebaldism; Gastrointestinal stromal tumor)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
- Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)