A114V (p.Ala114Val) variant of VWF (von Willebrand factor)
A114V (p.Ala114Val) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A114V (p.Ala114Val) variant details
- p.Ala114Val
- rs1365449398
- NCI-TCGA Cosmic COSV5462
- TOPMed rs1365449398
- gnomAD rs1365449398
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.42
- MetaLR 0.36
- MetaSVM -0.40
- CADD 29.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available