R61K (p.Arg61Lys) variant of VKORC1 (Q9BQB6)
R61K (p.Arg61Lys) 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 0.25 / 1. The record also includes population frequency data and structural context.
R61K (p.Arg61Lys) variant details
- p.Arg61Lys
- rs2544126628
- ClinGen CA395731079
- ClinVar RCV004482562
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.36
- CADD 4.90
- PolyPhen-2 0.01
- SIFT 0.22
- 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