V66M (p.Val66Met) variant of VKORC1 (Q9BQB6)
V66M (p.Val66Met) in VKORC1 (Q9BQB6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Vitamin K-dependent clotting factors, combined deficiency of, type 2; Warfarin r. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
V66M (p.Val66Met) variant details
- p.Val66Met
- rs72547529
- ClinGen CA8021197
- ClinVar RCV000853288
- ClinVar RCV001120431
- Conflicting interpretations
- Vitamin K-dependent clotting factors, combined deficiency of, type 2; Warfarin r
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.62
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Vitamin K-dependent clotting factors, combined deficiency of, ty)
- EBI: Pathogenic (in CMRES)
- UniProt: Pathogenic (in CMRES)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)