A14T (p.Ala14Thr) variant of VKORC1 (Q9BQB6)
A14T (p.Ala14Thr) in VKORC1 (Q9BQB6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- rs993371943
- ClinGen CA280622560
- ClinVar RCV004361448
- TOPMed rs993371943
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.59
- CADD 21.00
- PolyPhen-2 0.95
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available