V7A (p.Val7Ala) variant of CYP2D6 (Cytochrome P450 2D6)
V7A (p.Val7Ala) in CYP2D6 (Cytochrome P450 2D6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as drug response in the context of Tramadol response. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
V7A (p.Val7Ala) variant details
- p.Val7Ala
- rs1602591357
- ClinGen CA411776061
- ClinVar RCV001029556
- Ensembl rs1602591357
- drug response
- Tramadol response
- Missense
- Variant Prioritization Score for Impact Estimate 0.0629
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: drug response (Tramadol response)
- EBI: Drug response
- UniProt: Drug response
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available