V10D (p.Val10Asp) variant of PDGFRA (P16234)
V10D (p.Val10Asp) in PDGFRA (P16234) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V10D (p.Val10Asp) variant details
- p.Val10Asp
- ExAC rs781404006
- gnomAD rs781404006
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.20
- MetaLR 0.38
- MetaSVM -0.41
- CADD 23.30
- PolyPhen-2 0.47
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available