A12G (p.Ala12Gly) variant of FKRP (Q9H9S5)
A12G (p.Ala12Gly) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- gnomAD 19-46755485-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.41
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available