E16Q (p.Glu16Gln) variant of TPM1 (Tropomyosin alpha-1 chain)
E16Q (p.Glu16Gln) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
E16Q (p.Glu16Gln) variant details
- p.Glu16Gln
- rs727504290
- ClinGen CA018063
- ClinVar RCV000154303
- ClinVar RCV000159395
- Conflicting interpretations
- not specified; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- AlphaMissense 0.87
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.12
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)