G49R (p.Gly49Arg) variant of ATP6V1B1 (P15313)
G49R (p.Gly49Arg) 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 0.89 / 1. The record also includes population frequency data and structural context.
G49R (p.Gly49Arg) variant details
- p.Gly49Arg
- rs369442690
- ClinGen CA1700915
- ClinVar RCV003002156
- ClinVar RCV004753605
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.97
- CADD 26.20
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00022)
- Structural context available