E56D (p.Glu56Asp) variant of TNNC1 (P63316)
E56D (p.Glu56Asp) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
E56D (p.Glu56Asp) variant details
- p.Glu56Asp
- rs199523612
- ClinGen CA353168338
- ClinVar RCV001377540
- ExAC rs199523612
- Likely pathogenic
- Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- AlphaMissense 0.58
- MetaLR 0.67
- MetaSVM 0.44
- PolyPhen-2 0.89
- SIFT 0.05
- EVE 0.27
- ClinVar: Likely pathogenic (Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)