D65E (p.Asp65Glu) variant of TNNC1 (P63316)
D65E (p.Asp65Glu) 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 0.83 / 1. The record also includes published literature and structural context.
D65E (p.Asp65Glu) variant details
- p.Asp65Glu
- rs370426309
- ClinGen CA353167991
- ClinVar RCV001352246
- ESP rs370426309
- Uncertain significance
- Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 0.91
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.52
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13)
- EBI: Likely benign
- UniProt: Likely benign
- 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)