R35G (p.Arg35Gly) variant of FKRP (Q9H9S5)
R35G (p.Arg35Gly) 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.
R35G (p.Arg35Gly) variant details
- p.Arg35Gly
- gnomAD 19-46755553-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.41
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available