R2G (p.Arg2Gly) variant of FKRP (Q9H9S5)
R2G (p.Arg2Gly) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R2G (p.Arg2Gly) variant details
- p.Arg2Gly
- gnomAD 19-46755454-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.81
- CADD 25.20
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available