A9A (p.Ala9Ala) variant of FKRP (Q9H9S5)
A9A (p.Ala9Ala) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A9A (p.Ala9Ala) variant details
- p.Ala9Ala
- rs1157201899
- gnomAD 19-46755477-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 3.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available