F22L (p.Phe22Leu) variant of FKRP (Q9H9S5)
F22L (p.Phe22Leu) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
F22L (p.Phe22Leu) variant details
- p.Phe22Leu
- gnomAD 19-46755516-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.42
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available