L10R (p.Leu10Arg) variant of FKRP (Q9H9S5)
L10R (p.Leu10Arg) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L10R (p.Leu10Arg) variant details
- p.Leu10Arg
- gnomAD 19-46755479-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.75
- CADD 24.00
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available