C13R (p.Cys13Arg) variant of PDGFRA (P16234)
C13R (p.Cys13Arg) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
C13R (p.Cys13Arg) variant details
- p.Cys13Arg
- gnomAD 4-54240095-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0934
- CADD 2.15
- Population evidence available
- Structural context available
- Literature evidence available