V11M (p.Val11Met) variant of CYP2D6 (Cytochrome P450 2D6)
V11M (p.Val11Met) in CYP2D6 (Cytochrome P450 2D6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
V11M (p.Val11Met) variant details
- p.Val11Met
- rs769258
- ClinGen CA10265379
- cosmic curated COSV62244
- ClinVar RCV000835751
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0518
- CADD 0.01
- PolyPhen-2 0.02
- SIFT 0.14
- ClinVar: Likely benign (not provided)
- EBI: Benign (in allele CYP2D6*35)
- UniProt: Benign (in allele CYP2D6*35)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Genetic variation in eleven phase I drug metabolism genes in an ethnically diverse population. (PMID 15469410)