A46S (p.Ala46Ser) variant of VCL (Vinculin)
A46S (p.Ala46Ser) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
A46S (p.Ala46Ser) variant details
- p.Ala46Ser
- rs992545879
- ClinGen CA377255384
- ClinVar RCV002383676
- TOPMed rs992545879
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- AlphaMissense 0.19
- MetaLR 0.23
- MetaSVM -0.73
- PolyPhen-2 0.71
- SIFT 0.05
- EVE 0.30
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available