E63D (p.Glu63Asp) variant of TNNC1 (P63316)
E63D (p.Glu63Asp) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
E63D (p.Glu63Asp) variant details
- p.Glu63Asp
- rs864622721
- ClinGen CA349665
- ClinVar RCV000205502
- ClinVar RCV004020547
- Uncertain significance
- Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.62
- MetaLR 0.52
- MetaSVM -0.12
- PolyPhen-2 0.82
- SIFT 0.01
- EVE 0.26
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)