R88S (p.Arg88Ser) variant of CYP2A6 (Cytochrome P450 2A6)
R88S (p.Arg88Ser) in CYP2A6 (Cytochrome P450 2A6) is a missense change. Clinical records from ClinVar, EBI, 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 0.22 / 1. The record also includes population frequency data and structural context.
R88S (p.Arg88Ser) variant details
- p.Arg88Ser
- rs368359507
- ClinGen CA9453210
- ClinVar RCV004367871
- ESP rs368359507
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.16
- CADD 10.90
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available