T26S (p.Thr26Ser) variant of VWF (von Willebrand factor)
T26S (p.Thr26Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
T26S (p.Thr26Ser) variant details
- p.Thr26Ser
- rs747404115
- ClinGen CA6403904
- ClinVar RCV000759407
- ExAC rs747404115
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0849
- REVEL 0.03
- MetaLR 0.07
- MetaSVM -1.01
- CADD 0.37
- PolyPhen-2 0.00
- SIFT 0.75
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available