A23V (p.Ala23Val) variant of VWF (von Willebrand factor)
A23V (p.Ala23Val) 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 0.18 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- NCI-TCGA Cosmic COSV9977
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.01
- MetaLR 0.07
- MetaSVM -1.03
- CADD 7.89
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available