R5H (p.Arg5His) variant of FKRP (Q9H9S5)
R5H (p.Arg5His) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R5H (p.Arg5His) variant details
- p.Arg5His
- cosmic curated COSV59359
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.40
- CADD 23.70
- PolyPhen-2 0.61
- SIFT 0.44
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available