A45P (p.Ala45Pro) variant of VCL (Vinculin)
A45P (p.Ala45Pro) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1W. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
A45P (p.Ala45Pro) variant details
- p.Ala45Pro
- rs1840154859
- ClinGen CA377255370
- ClinVar RCV002465036
- Uncertain significance
- Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- AlphaMissense 0.09
- MetaLR 0.11
- MetaSVM -0.96
- PolyPhen-2 0.94
- SIFT 0.28
- EVE 0.11
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)