A49G (p.Ala49Gly) variant of VCL (Vinculin)
A49G (p.Ala49Gly) 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 0.37 / 1. The record also includes structural context.
A49G (p.Ala49Gly) variant details
- p.Ala49Gly
- rs1290715724
- ClinGen CA377255440
- ClinVar RCV002396897
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- AlphaMissense 0.29
- MetaLR 0.20
- MetaSVM -0.74
- PolyPhen-2 1.00
- SIFT 0.10
- EVE 0.17
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available