Q7H (p.Gln7His) variant of FKRP (Q9H9S5)
Q7H (p.Gln7His) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Q7H (p.Gln7His) variant details
- p.Gln7His
- gnomAD rs1487436628
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.49
- CADD 17.90
- PolyPhen-2 0.17
- SIFT 0.08
- Population evidence available
- Structural context available