V43I (p.Val43Ile) variant of VWF (von Willebrand factor)
V43I (p.Val43Ile) 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 0.11 / 1. The record also includes population frequency data and structural context.
V43I (p.Val43Ile) variant details
- p.Val43Ile
- rs772466729
- NCI-TCGA Cosmic COSV5462
- ExAC rs772466729
- TOPMed rs772466729
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -0.97
- CADD 7.03
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available