R64C (p.Arg64Cys) variant of CYP2A6 (Cytochrome P450 2A6)
R64C (p.Arg64Cys) in CYP2A6 (Cytochrome P450 2A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R64C (p.Arg64Cys) variant details
- p.Arg64Cys
- rs199515342
- ClinGen CA9453240
- ClinVar RCV003425185
- 1000Genomes rs199515342
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.17
- CADD 0.75
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:HAZARA population (allele frequency 0.062)
- Structural context available