G49A (p.Gly49Ala) variant of ATP6V1B1 (P15313)
G49A (p.Gly49Ala) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G49A (p.Gly49Ala) variant details
- p.Gly49Ala
- gnomAD 2-70943685-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.97
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available