I79T (p.Ile79Thr) variant of VCL (Vinculin)
I79T (p.Ile79Thr) 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; Dilated cardiomyopathy 1W. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I79T (p.Ile79Thr) variant details
- p.Ile79Thr
- rs2549198976
- ClinGen CA377260286
- ClinVar RCV002296686
- ClinVar RCV004990773
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.17
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.50
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)