A3T (p.Ala3Thr) variant of CYP2E1 (Cytochrome P450 2E1)
A3T (p.Ala3Thr) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- rs137875795
- gnomAD 10-133527509-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- CADD 13.20
- SIFT 0.76
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available