E114G (p.Glu114Gly) variant of TPM1 (Tropomyosin alpha-1 chain)
E114G (p.Glu114Gly) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
E114G (p.Glu114Gly) variant details
- p.Glu114Gly
- rs397516370
- ClinGen CA017987
- ClinVar RCV000036328
- Ensembl rs397516370
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- AlphaMissense 0.55
- MetaLR 0.73
- MetaSVM 0.69
- PolyPhen-2 0.13
- SIFT 0.02
- MutPred 0.57
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)