R77L (p.Arg77Leu) variant of CYP2A6 (Cytochrome P450 2A6)
R77L (p.Arg77Leu) 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 0.18 / 1. The record also includes population frequency data and structural context.
R77L (p.Arg77Leu) variant details
- p.Arg77Leu
- 1000Genomes rs201250423
- ExAC rs201250423
- TOPMed rs201250423
- gnomAD rs201250423
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.11
- CADD 17.00
- PolyPhen-2 0.47
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available