G42R (p.Gly42Arg) variant of CYP2D6 (Cytochrome P450 2D6)
G42R (p.Gly42Arg) in CYP2D6 (Cytochrome P450 2D6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign; other in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G42R (p.Gly42Arg) variant details
- p.Gly42Arg
- rs5030862
- ClinGen CA10265355
- cosmic curated COSV62243
- ClinVar RCV000734609
- Likely benign; other
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 21.90
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Likely benign; other (not provided)
- EBI: Benign (in allele CYP2D6*12)
- UniProt: Benign (in allele CYP2D6*12)
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine. (PMID 8655150)