A62E (p.Ala62Glu) variant of VWF (von Willebrand factor)
A62E (p.Ala62Glu) in VWF (von Willebrand factor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A62E (p.Ala62Glu) variant details
- p.Ala62Glu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.57
- MetaLR 0.57
- MetaSVM 0.41
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available