G49E (p.Gly49Glu) variant of ATP6V1B1 (P15313)
G49E (p.Gly49Glu) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G49E (p.Gly49Glu) variant details
- p.Gly49Glu
- gnomAD rs1553416796
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.97
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available