V29L (p.Val29Leu) variant of VKORC1 (Q9BQB6)
V29L (p.Val29Leu) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
V29L (p.Val29Leu) variant details
- p.Val29Leu
- rs104894539
- ClinGen CA115412
- ClinVar RCV000002291
- UniProt VAR 021821
- Pathogenic
- Warfarin response
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.87
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Pathogenic (Warfarin response)
- EBI: Pathogenic (in CMRES)
- UniProt: Pathogenic (in CMRES)
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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)