I43T (p.Ile43Thr) variant of CYP2A6 (Cytochrome P450 2A6)
I43T (p.Ile43Thr) in CYP2A6 (Cytochrome P450 2A6) is a missense change. 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.
I43T (p.Ile43Thr) variant details
- p.Ile43Thr
- 1000Genomes rs575050301
- ExAC rs575050301
- TOPMed rs575050301
- gnomAD rs575050301
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.28
- CADD 22.60
- PolyPhen-2 0.57
- SIFT 0.00
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available