K38N (p.Lys38Asn) variant of TNNI3 (Troponin I, cardiac muscle)
K38N (p.Lys38Asn) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
K38N (p.Lys38Asn) variant details
- p.Lys38Asn
- rs730881066
- ClinGen CA021251
- ClinVar RCV000159209
- ClinVar RCV001525777
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.59
- MetaLR 0.94
- MetaSVM 1.01
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)