S1310F (p.Ser1310Phe) variant of VWF (von Willebrand factor)
S1310F (p.Ser1310Phe) 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 2B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
S1310F (p.Ser1310Phe) variant details
- p.Ser1310Phe
- rs61749390
- ClinGen CA228494
- ClinVar RCV000086707
- ClinVar RCV004821265
- Likely pathogenic
- Von Willebrand disease type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 0.70
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.58
- ClinVar: Likely pathogenic (Von Willebrand disease type 2B)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)