R48R (p.Arg48Arg) variant of PDGFRA (P16234)
R48R (p.Arg48Arg) in PDGFRA (P16234) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R48R (p.Arg48Arg) variant details
- p.Arg48Arg
- gnomAD 4-54240064-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 14.20
- Population evidence available
- Structural context available
- Literature evidence available