R58G (p.Arg58Gly) variant of VKORC1 (Q9BQB6)
R58G (p.Arg58Gly) in VKORC1 (Q9BQB6) 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 0.72 / 1. The record also includes published literature and structural context.
R58G (p.Arg58Gly) variant details
- p.Arg58Gly
- rs104894541
- ClinGen CA115414
- ClinVar RCV000002293
- UniProt VAR 021823
- Pathogenic
- Warfarin response
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- AlphaMissense 0.17
- MetaLR 0.92
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.30
- MutPred 0.92
- ClinVar: Pathogenic (Warfarin response)
- EBI: Pathogenic (in CMRES)
- UniProt: Pathogenic (in CMRES)
- Structural context available
- Cited in: Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. (PMID 14765194)
- Cited in: Thirteen novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis… (PMID 20946155)