N31I (p.Asn31Ile) variant of CYP2E1 (Cytochrome P450 2E1)
N31I (p.Asn31Ile) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N31I (p.Asn31Ile) variant details
- p.Asn31Ile
- TOPMed rs1443704595
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.09
- MetaLR 0.26
- MetaSVM -0.77
- CADD 24.20
- PolyPhen-2 0.55
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available