R37W (p.Arg37Trp) variant of FKRP (Q9H9S5)
R37W (p.Arg37Trp) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R37W (p.Arg37Trp) variant details
- p.Arg37Trp
- TOPMed rs867239704
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.31
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available