A86V (p.Ala86Val) variant of CYP2A6 (Cytochrome P450 2A6)
A86V (p.Ala86Val) 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 0.25 / 1. The record also includes population frequency data and structural context.
A86V (p.Ala86Val) variant details
- p.Ala86Val
- ExAC rs752135850
- TOPMed rs752135850
- gnomAD rs752135850
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.17
- CADD 12.30
- PolyPhen-2 0.13
- SIFT 0.21
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available