A8L (p.Ala8Leu) variant of FKRP (Q9H9S5)
A8L (p.Ala8Leu) in FKRP (Q9H9S5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A8L (p.Ala8Leu) variant details
- p.Ala8Leu
- gnomAD 19-46755470-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 24.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available