T32A (p.Thr32Ala) variant of VWF (von Willebrand factor)
T32A (p.Thr32Ala) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
T32A (p.Thr32Ala) variant details
- p.Thr32Ala
- TOPMed rs772515993
- gnomAD rs772515993
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0639
- REVEL 0.01
- MetaLR 0.05
- MetaSVM -1.00
- CADD 0.74
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available