R64S (p.Arg64Ser) variant of CYP2A6 (Cytochrome P450 2A6)
R64S (p.Arg64Ser) in CYP2A6 (Cytochrome P450 2A6) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
R64S (p.Arg64Ser) variant details
- p.Arg64Ser
- 1000Genomes rs199515342
- ExAC rs199515342
- gnomAD rs199515342
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0742
- REVEL 0.03
- CADD 0.10
- PolyPhen-2 0.21
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available