N50S (p.Asn50Ser) variant of CYP2A6 (Cytochrome P450 2A6)
N50S (p.Asn50Ser) 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 0.12 / 1. The record also includes population frequency data and structural context.
N50S (p.Asn50Ser) variant details
- p.Asn50Ser
- ESP rs374253823
- ExAC rs374253823
- TOPMed rs374253823
- gnomAD rs374253823
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.03
- CADD 1.32
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available