R76W (p.Arg76Trp) variant of CYP2A6 (Cytochrome P450 2A6)
R76W (p.Arg76Trp) in CYP2A6 (Cytochrome P450 2A6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R76W (p.Arg76Trp) variant details
- p.Arg76Trp
- TOPMed rs948874490
- gnomAD rs948874490
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.34
- CADD 17.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available