C6S (p.Cys6Ser) variant of FKRP (Q9H9S5)
C6S (p.Cys6Ser) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
C6S (p.Cys6Ser) variant details
- p.Cys6Ser
- gnomAD 19-46755466-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.74
- CADD 23.50
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available