A2A (p.Ala2Ala) variant of ATP6V1B1 (P15313)
A2A (p.Ala2Ala) in ATP6V1B1 (P15313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs1553415239
- gnomAD 2-70935960-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 8.89
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available