A44S (p.Ala44Ser) variant of FKRP (Q9H9S5)
A44S (p.Ala44Ser) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A44S (p.Ala44Ser) variant details
- p.Ala44Ser
- gnomAD 19-46755580-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.28
- CADD 0.75
- PolyPhen-2 0.00
- SIFT 0.74
- Population evidence available
- Structural context available
- Literature evidence available