V78I (p.Val78Ile) variant of CYP2A6 (Cytochrome P450 2A6)
V78I (p.Val78Ile) 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 0.05 / 1. The record also includes population frequency data and structural context.
V78I (p.Val78Ile) variant details
- p.Val78Ile
- ExAC rs776744913
- TOPMed rs776744913
- gnomAD rs776744913
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0535
- REVEL 0.05
- CADD 0.02
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available