V82A (p.Val82Ala) variant of VWF (von Willebrand factor)
V82A (p.Val82Ala) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar 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 0.21 / 1. The record also includes population frequency data and structural context.
V82A (p.Val82Ala) variant details
- p.Val82Ala
- TOPMed rs1233127757
- gnomAD rs1233127757
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.09
- MetaLR 0.18
- MetaSVM -0.93
- CADD 16.60
- PolyPhen-2 0.20
- SIFT 0.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available