R37L (p.Arg37Leu) variant of FKRP (Q9H9S5)
R37L (p.Arg37Leu) 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, published literature, and structural context.
R37L (p.Arg37Leu) variant details
- p.Arg37Leu
- gnomAD 19-46755560-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.42
- CADD 17.70
- PolyPhen-2 0.22
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available