P34S (p.Pro34Ser) variant of CYP2D6 (Cytochrome P450 2D6)
P34S (p.Pro34Ser) in CYP2D6 (Cytochrome P450 2D6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign; drug response; other in the context of not specified; not provided; Deutetrabenazine response. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- rs1065852
- ClinGen CA126956
- cosmic curated COSV62243
- ClinVar RCV000018389
- Likely benign; drug response; other
- not specified; not provided; Deutetrabenazine response
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 24.40
- PolyPhen-2 0.69
- SIFT 0.02
- ClinVar: Likely benign; drug response; other (not specified; not provided; Deutetrabenazine response)
- EBI: Benign (in allele CYP2D6*10 and allele CYP2D6*14)
- UniProt: Benign (in allele CYP2D6*10 and allele CYP2D6*14)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: CYP2D6.10 present in human liver microsomes shows low catalytic activity and thermal stability. (PMID 12051754)
- Cited in: Genetic variation in eleven phase I drug metabolism genes in an ethnically diverse population. (PMID 15469410)