A5V (p.Ala5Val) variant of CYP2D6 (Cytochrome P450 2D6)
A5V (p.Ala5Val) in CYP2D6 (Cytochrome P450 2D6) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele CYP2D6*87. 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.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- rs773790593
- cosmic curated COSV62243
- UniProt VAR 072764
- ExAC rs773790593
- Benign
- in allele CYP2D6*87
- Missense
- Variant Prioritization Score for Impact Estimate 0.0542
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.24
- EBI: Benign (in allele CYP2D6*87)
- UniProt: Benign (in allele CYP2D6*87)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: In vitro functional assessment of 22 newly identified CYP2D6 allelic variants in the Chinese population. (PMID 25469868)