R76Q (p.Arg76Gln) variant of CYP2A6 (Cytochrome P450 2A6)
R76Q (p.Arg76Gln) 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 0.43 / 1. The record also includes population frequency data and structural context.
R76Q (p.Arg76Gln) variant details
- p.Arg76Gln
- ExAC rs752300065
- gnomAD rs752300065
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.25
- CADD 19.30
- PolyPhen-2 0.74
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available