D38Y (p.Asp38Tyr) variant of VKORC1 (Q9BQB6)
D38Y (p.Asp38Tyr) 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 0.59 / 1. The record also includes population frequency data and structural context.
D38Y (p.Asp38Tyr) variant details
- p.Asp38Tyr
- ExAC rs774078258
- TOPMed rs774078258
- gnomAD rs774078258
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.47
- CADD 22.20
- PolyPhen-2 0.36
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available