R56W (p.Arg56Trp) variant of ATP6V1B1 (P15313)
R56W (p.Arg56Trp) 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 0.48 / 1. The record also includes population frequency data and structural context.
R56W (p.Arg56Trp) variant details
- p.Arg56Trp
- cosmic curated COSV52268
- ExAC rs781824659
- TOPMed rs781824659
- gnomAD rs781824659
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.43
- CADD 26.80
- PolyPhen-2 0.67
- 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 4.8e-05)
- Structural context available