N25D (p.Asn25Asp) variant of TNNI3 (Troponin I, cardiac muscle)
N25D (p.Asn25Asp) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
N25D (p.Asn25Asp) variant details
- p.Asn25Asp
- rs2085738407
- ClinGen CA407443033
- ClinVar RCV001181194
- Ensembl rs2085738407
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.57
- MetaLR 0.74
- MetaSVM 0.54
- PolyPhen-2 0.95
- SIFT 0.09
- MutPred 0.11
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)