R5L (p.Arg5Leu) variant of FKRP (Q9H9S5)
R5L (p.Arg5Leu) 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.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- gnomAD 19-46755464-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.41
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.82
- Population evidence available
- Structural context available
- Literature evidence available