S29N (p.Ser29Asn) variant of CYP2A6 (Cytochrome P450 2A6)
S29N (p.Ser29Asn) in CYP2A6 (Cytochrome P450 2A6) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele CYP2A6*14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S29N (p.Ser29Asn) variant details
- p.Ser29Asn
- rs28399435
- UniProt VAR 018331
- 1000Genomes rs28399435
- ESP rs28399435
- Benign
- in allele CYP2A6*14
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.03
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.45
- EBI: Benign (in allele CYP2A6*14)
- UniProt: Benign (in allele CYP2A6*14)
- Most common in the HGDP:TUSCAN population (allele frequency 0.12)
- Structural context available
- Cited in: Genetic variation in eleven phase I drug metabolism genes in an ethnically diverse population. (PMID 15469410)
- Cited in: Twenty one novel single nucleotide polymorphisms (SNPs) of the CYP2A6 gene in Japanese and Caucasians. (PMID 15618701)