K8K (p.Lys8Lys) variant of ATP6V1A (P38606)
K8K (p.Lys8Lys) in ATP6V1A (P38606) is a synonymous 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.
K8K (p.Lys8Lys) variant details
- p.Lys8Lys
- gnomAD 3-113778777-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 11.90
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available