R37P (p.Arg37Pro) variant of FKRP (Q9H9S5)
R37P (p.Arg37Pro) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R37P (p.Arg37Pro) variant details
- p.Arg37Pro
- gnomAD 19-46755560-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.39
- CADD 22.40
- PolyPhen-2 0.65
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available