G5R (p.Gly5Arg) variant of CYP2A6 (Cytochrome P450 2A6)
G5R (p.Gly5Arg) 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*13. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- rs28399434
- UniProt VAR 018330
- 1000Genomes rs28399434
- ExAC rs28399434
- Benign
- in allele CYP2A6*13
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.20
- CADD 21.00
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Benign (in allele CYP2A6*13)
- UniProt: Benign (in allele CYP2A6*13)
- Most common in the HGDP:JAPANESE population (allele frequency 0.019)
- 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)