V66G (p.Val66Gly) variant of VKORC1 (Q9BQB6)
V66G (p.Val66Gly) in VKORC1 (Q9BQB6) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMRES. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
V66G (p.Val66Gly) variant details
- p.Val66Gly
- UniProt VAR 065792
- Pathogenic
- in CMRES
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 13.20
- EBI: Pathogenic (in CMRES)
- UniProt: Pathogenic (in CMRES)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Thirteen novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis… (PMID 20946155)
- Cited in: Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. (PMID 14765194)