L12L (p.Leu12Leu) variant of ATP6V1B1 (P15313)
L12L (p.Leu12Leu) in ATP6V1B1 (P15313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- rs781923112
- gnomAD 2-70935990-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.191
- CADD 5.25
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available