V10A (p.Val10Ala) variant of PDGFRA (P16234)
V10A (p.Val10Ala) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
V10A (p.Val10Ala) variant details
- p.Val10Ala
- rs781404006
- ClinGen CA356888089
- ClinVar RCV001971543
- ExAC rs781404006
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.04
- MetaLR 0.24
- MetaSVM -0.53
- CADD 19.30
- PolyPhen-2 0.04
- SIFT 1.00
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)