D2N (p.Asp2Asn) variant of TNNC1 (P63316)
D2N (p.Asp2Asn) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
D2N (p.Asp2Asn) variant details
- p.Asp2Asn
- rs886058707
- ClinGen CA10619226
- ClinVar RCV000312255
- ClinVar RCV000398459
- Uncertain significance
- Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- AlphaMissense 0.15
- MetaLR 0.23
- MetaSVM -0.74
- PolyPhen-2 0.00
- SIFT 0.42
- MutPred 0.33
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13; not s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)