A26T (p.Ala26Thr) variant of VKORC1 (Q9BQB6)
A26T (p.Ala26Thr) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- rs770703948
- UniProt VAR 065785
- ExAC rs770703948
- gnomAD rs770703948
- Pathogenic
- in CMRES
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.86
- CADD 23.60
- PolyPhen-2 0.41
- SIFT 0.03
- EBI: Pathogenic (in CMRES)
- UniProt: Pathogenic (in CMRES)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- 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)