A12D (p.Ala12Asp) variant of FKRP (Q9H9S5)
A12D (p.Ala12Asp) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A12D (p.Ala12Asp) variant details
- p.Ala12Asp
- gnomAD 19-46755485-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.67
- CADD 22.80
- PolyPhen-2 0.50
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available