N25I (p.Asn25Ile) variant of TNNI3 (Troponin I, cardiac muscle)
N25I (p.Asn25Ile) 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 0.56 / 1. The record also includes published literature and structural context.
N25I (p.Asn25Ile) variant details
- p.Asn25Ile
- rs1555864368
- ClinGen CA407443023
- ClinVar RCV001180969
- Ensembl rs1555864368
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- AlphaMissense 0.16
- MetaLR 0.65
- MetaSVM 0.27
- PolyPhen-2 0.26
- SIFT 0.06
- MutPred 0.26
- 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)