A44D (p.Ala44Asp) variant of FKRP (Q9H9S5)
A44D (p.Ala44Asp) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A44D (p.Ala44Asp) variant details
- p.Ala44Asp
- gnomAD 19-46755581-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.36
- CADD 8.50
- PolyPhen-2 0.05
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available