S1783A (p.Ser1783Ala) variant of VWF (von Willebrand factor)
S1783A (p.Ser1783Ala) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of von Willebrand disease type 2M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S1783A (p.Ser1783Ala) variant details
- p.Ser1783Ala
- rs267607353
- ClinGen CA228715
- ClinVar RCV000024004
- ClinVar RCV000086836
- Likely pathogenic
- von Willebrand disease type 2M
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.69
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Likely pathogenic (von Willebrand disease type 2M)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:ITU population (allele frequency 0.015)
- Structural context available
- Cited in: Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von… (PMID 19687512)
- Cited in: Von Willebrand Disease. (PMID 20301765)