P36A (p.Pro36Ala) variant of KIT (P10721)
P36A (p.Pro36Ala) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
P36A (p.Pro36Ala) variant details
- p.Pro36Ala
- rs781633384
- ClinGen CA356896854
- ClinVar RCV003526264
- ClinVar RCV005648300
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.09
- MetaLR 0.08
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.27
- MutPred 0.31
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- 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)