G144S (p.Gly144Ser) variant of VWF (von Willebrand factor)
G144S (p.Gly144Ser) in VWF (von Willebrand factor) 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 0.43 / 1. The record also includes population frequency data and structural context.
G144S (p.Gly144Ser) variant details
- p.Gly144Ser
- rs781180895
- NCI-TCGA Cosmic COSV5463
- ExAC rs781180895
- TOPMed rs781180895
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.22
- MetaLR 0.34
- MetaSVM -0.48
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available