C6F (p.Cys6Phe) variant of FKRP (Q9H9S5)
C6F (p.Cys6Phe) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
C6F (p.Cys6Phe) variant details
- p.Cys6Phe
- gnomAD 19-46755467-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.64
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available