R42M (p.Arg42Met) variant of ATP6V1B1 (P15313)
R42M (p.Arg42Met) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R42M (p.Arg42Met) variant details
- p.Arg42Met
- gnomAD 2-70943664-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.56
- CADD 23.40
- PolyPhen-2 0.39
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available