V13A (p.Val13Ala) variant of CYP2A6 (Cytochrome P450 2A6)
V13A (p.Val13Ala) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- 1000Genomes rs373993802
- ESP rs373993802
- ExAC rs373993802
- TOPMed rs373993802
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.09
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the 1KG:GIH population (allele frequency 0.0051)
- Structural context available