Y113C (p.Tyr113Cys) variant of VWF (von Willebrand factor)
Y113C (p.Tyr113Cys) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; von Willebrand disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Y113C (p.Tyr113Cys) variant details
- p.Tyr113Cys
- rs374854636
- ClinGen CA232363434
- ClinVar RCV001284260
- ClinVar RCV002537931
- Conflicting interpretations
- Inborn genetic diseases; not provided; von Willebrand disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.55
- MetaLR 0.44
- MetaSVM -0.06
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; von Willebrand disease ty)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)