A3S (p.Ala3Ser) variant of CYP2A6 (Cytochrome P450 2A6)
A3S (p.Ala3Ser) in CYP2A6 (Cytochrome P450 2A6) is a missense change. 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.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- ExAC rs757376520
- gnomAD rs757376520
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.13
- CADD 15.90
- PolyPhen-2 0.49
- SIFT 0.59
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available