V7M (p.Val7Met) variant of CYP2D6 (Cytochrome P450 2D6)
V7M (p.Val7Met) in CYP2D6 (Cytochrome P450 2D6) is a missense change. Clinical records from ClinVar 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 and structural context.
V7M (p.Val7Met) variant details
- p.Val7Met
- cosmic curated COSV99053
- 1000Genomes rs72549358
- ESP rs72549358
- ExAC rs72549358
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.053
- CADD 0.46
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available