A17E (p.Ala17Glu) variant of VCL (Vinculin)
A17E (p.Ala17Glu) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
A17E (p.Ala17Glu) variant details
- p.Ala17Glu
- rs794729189
- ClinGen CA335610
- ClinVar RCV000183987
- Ensembl rs794729189
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 1.00
- MetaLR 0.27
- MetaSVM -0.42
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available