R41C (p.Arg41Cys) variant of FKRP (Q9H9S5)
R41C (p.Arg41Cys) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R41C (p.Arg41Cys) variant details
- p.Arg41Cys
- gnomAD 19-46755571-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.34
- CADD 20.80
- PolyPhen-2 0.25
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available