D93N (p.Asp93Asn) variant of CYP2A6 (Cytochrome P450 2A6)
D93N (p.Asp93Asn) in CYP2A6 (Cytochrome P450 2A6) 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 0.49 / 1. The record also includes population frequency data and structural context.
D93N (p.Asp93Asn) variant details
- p.Asp93Asn
- ESP rs149065015
- ExAC rs149065015
- TOPMed rs149065015
- gnomAD rs149065015
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.33
- CADD 23.30
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available