A42S (p.Ala42Ser) variant of FKRP (Q9H9S5)
A42S (p.Ala42Ser) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A42S (p.Ala42Ser) variant details
- p.Ala42Ser
- gnomAD 19-46755574-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.22
- CADD 4.39
- PolyPhen-2 0.00
- SIFT 0.61
- Population evidence available
- Structural context available
- Literature evidence available