V10S (p.Val10Ser) variant of PDGFRA (P16234)
V10S (p.Val10Ser) in PDGFRA (P16234) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V10S (p.Val10Ser) variant details
- p.Val10Ser
- gnomAD 4-54240066-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.163
- CADD 11.60
- Population evidence available
- Structural context available
- Literature evidence available