V79M (p.Val79Met) variant of CYP2A6 (Cytochrome P450 2A6)
V79M (p.Val79Met) 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 0.41 / 1. The record also includes population frequency data and structural context.
V79M (p.Val79Met) variant details
- p.Val79Met
- rs747024492
- NCI-TCGA Cosmic COSV5653
- ExAC rs747024492
- TOPMed rs747024492
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.19
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.00
- 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