G79V (p.Gly79Val) variant of VWF (von Willebrand factor)
G79V (p.Gly79Val) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G79V (p.Gly79Val) variant details
- p.Gly79Val
- rs1020664699
- ClinGen CA232363901
- ClinVar RCV003239201
- ClinVar RCV004801333
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.48
- MetaLR 0.41
- MetaSVM -0.16
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available