D47N (p.Asp47Asn) variant of CYP2B6 (Cytochrome P450 2B6)
D47N (p.Asp47Asn) in CYP2B6 (Cytochrome P450 2B6) is a missense change. Clinical records from ClinVar, EBI, 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 0.18 / 1. The record also includes population frequency data and structural context.
D47N (p.Asp47Asn) variant details
- p.Asp47Asn
- ExAC rs531379847
- TOPMed rs531379847
- gnomAD rs531379847
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.06
- MetaLR 0.11
- MetaSVM -1.02
- CADD 5.67
- PolyPhen-2 0.07
- SIFT 0.45
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available