G58A (p.Gly58Ala) variant of VCL (Vinculin)
G58A (p.Gly58Ala) 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 0.47 / 1. The record also includes population frequency data and structural context.
G58A (p.Gly58Ala) variant details
- p.Gly58Ala
- rs1841125642
- ClinGen CA377259918
- ClinVar RCV003368166
- TOPMed rs1841125642
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.28
- AlphaMissense 0.95
- MetaLR 0.34
- MetaSVM -0.69
- CADD 24.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available