D3N (p.Asp3Asn) variant of TNNC1 (P63316)
D3N (p.Asp3Asn) 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 0.46 / 1. The record also includes published literature and structural context.
D3N (p.Asp3Asn) variant details
- p.Asp3Asn
- rs2153230088
- ClinGen CA353170975
- ClinVar RCV001372143
- Ensembl rs2153230088
- Uncertain significance
- Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- AlphaMissense 0.29
- MetaLR 0.36
- MetaSVM -0.35
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.35
- 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)