G131S (p.Gly131Ser) variant of VWF (von Willebrand factor)
G131S (p.Gly131Ser) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary von Willebrand disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G131S (p.Gly131Ser) variant details
- p.Gly131Ser
- rs76505074
- ClinGen CA6403810
- ClinVar RCV000246724
- ClinVar RCV000382333
- Likely benign
- Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.14
- MetaLR 0.01
- MetaSVM -1.02
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Likely benign (Hereditary von Willebrand disease)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)