V44M (p.Val44Met) variant of ATP6V1B1 (P15313)
V44M (p.Val44Met) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V44M (p.Val44Met) variant details
- p.Val44Met
- gnomAD 2-70943669-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.72
- CADD 25.70
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available