W5S (p.Trp5Ser) variant of VKORC1 (Q9BQB6)
W5S (p.Trp5Ser) 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 0.68 / 1. The record also includes population frequency data and structural context.
W5S (p.Trp5Ser) variant details
- p.Trp5Ser
- rs752892359
- ClinGen CA395733154
- ClinVar RCV004482561
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.68
- CADD 24.40
- PolyPhen-2 0.92
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available