A11G (p.Ala11Gly) variant of FKRP (Q9H9S5)
A11G (p.Ala11Gly) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A11G (p.Ala11Gly) variant details
- p.Ala11Gly
- gnomAD 19-46755482-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.54
- CADD 25.00
- PolyPhen-2 0.61
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available