M22I (p.Met22Ile) variant of CYP2E1 (Cytochrome P450 2E1)
M22I (p.Met22Ile) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
M22I (p.Met22Ile) variant details
- p.Met22Ile
- TOPMed rs772430702
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.08
- MetaLR 0.06
- MetaSVM -1.03
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available