S29A (p.Ser29Ala) variant of PDGFRA (P16234)
S29A (p.Ser29Ala) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
S29A (p.Ser29Ala) variant details
- p.Ser29Ala
- rs746846673
- ClinGen CA356888215
- ClinVar RCV002588603
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- AlphaMissense 0.50
- MetaLR 0.07
- MetaSVM -1.04
- PolyPhen-2 0.77
- SIFT 0.20
- MutPred 0.43
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- 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)