V53V (p.Val53Val) variant of ATP6V1B1 (P15313)
V53V (p.Val53Val) in ATP6V1B1 (P15313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V53V (p.Val53Val) variant details
- p.Val53Val
- rs1361849084
- gnomAD 2-70943698-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.302
- CADD 8.34
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available