A8S (p.Ala8Ser) variant of FKRP (Q9H9S5)
A8S (p.Ala8Ser) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- gnomAD 19-46755472-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.42
- CADD 21.60
- PolyPhen-2 0.11
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available