A42D (p.Ala42Asp) variant of FKRP (Q9H9S5)
A42D (p.Ala42Asp) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A42D (p.Ala42Asp) variant details
- p.Ala42Asp
- gnomAD 19-46755575-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.24
- CADD 9.28
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available