H68Y (p.His68Tyr) variant of VKORC1 (Q9BQB6)
H68Y (p.His68Tyr) in VKORC1 (Q9BQB6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Vitamin K-dependent clotting factors, combined deficiency of, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
H68Y (p.His68Tyr) variant details
- p.His68Tyr
- rs145273772
- ClinGen CA8021196
- ClinVar RCV001120430
- ESP rs145273772
- Uncertain significance
- Vitamin K-dependent clotting factors, combined deficiency of, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.34
- CADD 15.30
- PolyPhen-2 0.21
- SIFT 1.00
- ClinVar: Uncertain significance (Vitamin K-dependent clotting factors, combined deficiency of, ty)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available