Q38E (p.Gln38Glu) variant of TPM1 (Tropomyosin alpha-1 chain)
Q38E (p.Gln38Glu) 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 Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
Q38E (p.Gln38Glu) variant details
- p.Gln38Glu
- rs1060501863
- ClinGen CA16614859
- ClinVar RCV000462958
- ClinVar RCV001181135
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- AlphaMissense 0.12
- MetaLR 0.86
- MetaSVM 0.78
- PolyPhen-2 0.00
- SIFT 0.05
- MutPred 0.21
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)