C14G (p.Cys14Gly) variant of CYP2A6 (Cytochrome P450 2A6)
C14G (p.Cys14Gly) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
C14G (p.Cys14Gly) variant details
- p.Cys14Gly
- gnomAD rs1967200458
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.20
- CADD 20.60
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available