N42I (p.Asn42Ile) variant of CYP2B6 (Cytochrome P450 2B6)
N42I (p.Asn42Ile) in CYP2B6 (Cytochrome P450 2B6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
N42I (p.Asn42Ile) variant details
- p.Asn42Ile
- ExAC rs749817915
- TOPMed rs749817915
- gnomAD rs749817915
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.57
- MetaLR 0.54
- MetaSVM 0.09
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-05)
- Structural context available