D75E (p.Asp75Glu) variant of TNNC1 (P63316)
D75E (p.Asp75Glu) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D75E (p.Asp75Glu) variant details
- p.Asp75Glu
- rs776989897
- ClinGen CA2438547
- ClinVar RCV003341688
- ClinVar RCV005228011
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- AlphaMissense 0.17
- MetaLR 0.17
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.82
- EVE 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1Z; Hypertrophi)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)