C6Y (p.Cys6Tyr) variant of FKRP (Q9H9S5)
C6Y (p.Cys6Tyr) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
C6Y (p.Cys6Tyr) variant details
- p.Cys6Tyr
- gnomAD 19-46755467-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.53
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available