M3V (p.Met3Val) variant of ATP6V1B1 (P15313)
M3V (p.Met3Val) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
M3V (p.Met3Val) variant details
- p.Met3Val
- TOPMed rs1444142592
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.24
- CADD 5.69
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available