I42N (p.Ile42Asn) variant of CYP2C9 (Cytochrome P450 2C9)
I42N (p.Ile42Asn) in CYP2C9 (Cytochrome P450 2C9) 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 0.39 / 1. The record also includes population frequency data and structural context.
I42N (p.Ile42Asn) variant details
- p.Ile42Asn
- TOPMed rs1046460985
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.30
- CADD 22.10
- PolyPhen-2 0.83
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available