N25K (p.Asn25Lys) variant of TNNI3 (Troponin I, cardiac muscle)
N25K (p.Asn25Lys) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
N25K (p.Asn25Lys) variant details
- p.Asn25Lys
- rs1568859781
- ClinGen CA407443015
- ClinVar RCV000774299
- Ensembl rs1568859781
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.42
- MetaLR 0.70
- MetaSVM 0.33
- CADD 23.70
- PolyPhen-2 0.68
- SIFT 0.20
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)