L12A (p.Leu12Ala) variant of ATP6V1B1 (P15313)
L12A (p.Leu12Ala) in ATP6V1B1 (P15313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L12A (p.Leu12Ala) variant details
- p.Leu12Ala
- rs1679840748
- gnomAD 2-70935981-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 22.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available