D36N (p.Asp36Asn) variant of VKORC1 (Q9BQB6)
D36N (p.Asp36Asn) 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 0.34 / 1. The record also includes population frequency data and structural context.
D36N (p.Asp36Asn) variant details
- p.Asp36Asn
- 1000Genomes rs61742245
- ESP rs61742245
- ExAC rs61742245
- TOPMed rs61742245
- Pathogenic
- in CMRES
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.33
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.22
- EBI: Pathogenic (in CMRES)
- UniProt: Pathogenic (in CMRES)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available