R56G (p.Arg56Gly) variant of ATP6V1B1 (P15313)
R56G (p.Arg56Gly) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R56G (p.Arg56Gly) variant details
- p.Arg56Gly
- rs781824659
- ClinGen CA1700917
- ClinVar RCV003070792
- ExAC rs781824659
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.33
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.62
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available