V52V (p.Val52Val) variant of ATP6V1B1 (P15313)
V52V (p.Val52Val) in ATP6V1B1 (P15313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V52V (p.Val52Val) variant details
- p.Val52Val
- gnomAD 2-70943695-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 9.82
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available