L208V (p.Leu208Val) variant of CYP2C9 (Cytochrome P450 2C9)
L208V (p.Leu208Val) in CYP2C9 (Cytochrome P450 2C9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Warfarin response. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
L208V (p.Leu208Val) variant details
- p.Leu208Val
- rs72558191
- ClinGen CA119594
- ClinVar RCV000008921
- Ensembl rs72558191
- Pathogenic
- Warfarin response
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- AlphaMissense 0.14
- MetaLR 0.18
- MetaSVM -0.96
- PolyPhen-2 0.00
- SIFT 0.15
- MutPred 0.49
- ClinVar: Pathogenic (Warfarin response)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic polymorphism in exon 4 of cytochrome P450 CYP2C9 may be associated with warfarin sensitivity in Chinese… (PMID 11588061)