L50L (p.Leu50Leu) variant of ATP6V1A (P38606)
L50L (p.Leu50Leu) in ATP6V1A (P38606) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- rs771765985
- gnomAD 3-113781115-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.86
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available