R38L (p.Arg38Leu) variant of ATP6V1B1 (P15313)
R38L (p.Arg38Leu) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R38L (p.Arg38Leu) variant details
- p.Arg38Leu
- gnomAD 2-70936067-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.67
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available