D108N (p.Asp108Asn) variant of CYP2A6 (Cytochrome P450 2A6)
D108N (p.Asp108Asn) in CYP2A6 (Cytochrome P450 2A6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D108N (p.Asp108Asn) variant details
- p.Asp108Asn
- rs760744271
- NCI-TCGA Cosmic COSV9999
- ExAC rs760744271
- TOPMed rs760744271
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.16
- CADD 0.00
- PolyPhen-2 0.03
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available