R48H (p.Arg48His) variant of FKRP (Q9H9S5)
R48H (p.Arg48His) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R48H (p.Arg48His) variant details
- p.Arg48His
- gnomAD 19-46755593-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.42
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Literature evidence available