P31A (p.Pro31Ala) variant of KIT (P10721)
P31A (p.Pro31Ala) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
P31A (p.Pro31Ala) variant details
- p.Pro31Ala
- rs1431394530
- ClinGen CA356896825
- ClinVar RCV000796723
- ClinVar RCV002370087
- Uncertain significance
- Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- AlphaMissense 0.07
- MetaLR 0.46
- MetaSVM -0.32
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.25
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Hereditary cancer-predisposing s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)