A11E (p.Ala11Glu) variant of FKRP (Q9H9S5)
A11E (p.Ala11Glu) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A11E (p.Ala11Glu) variant details
- p.Ala11Glu
- gnomAD 19-46755482-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.58
- CADD 21.50
- PolyPhen-2 0.18
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available