A14T (p.Ala14Thr) variant of CYP2E1 (Cytochrome P450 2E1)
A14T (p.Ala14Thr) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- gnomAD 10-133527435-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.08
- MetaLR 0.10
- MetaSVM -0.95
- CADD 0.59
- PolyPhen-2 0.03
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available