A45D (p.Ala45Asp) variant of FKRP (Q9H9S5)
A45D (p.Ala45Asp) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A45D (p.Ala45Asp) variant details
- p.Ala45Asp
- gnomAD 19-46755584-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.32
- CADD 1.29
- PolyPhen-2 0.01
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available