V68A (p.Val68Ala) variant of CYP2A6 (Cytochrome P450 2A6)
V68A (p.Val68Ala) 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 0.51 / 1. The record also includes population frequency data and structural context.
V68A (p.Val68Ala) variant details
- p.Val68Ala
- ExAC rs753492338
- gnomAD rs753492338
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.44
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00063)
- Structural context available