A14P (p.Ala14Pro) variant of VKORC1 (Q9BQB6)
A14P (p.Ala14Pro) in VKORC1 (Q9BQB6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A14P (p.Ala14Pro) variant details
- p.Ala14Pro
- TOPMed rs993371943
- gnomAD rs993371943
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.77
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available