K125I (p.Lys125Ile) variant of TNNT2 (Troponin T, cardiac muscle)
K125I (p.Lys125Ile) in TNNT2 (Troponin T, 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 0.82 / 1. The record also includes published literature.
K125I (p.Lys125Ile) variant details
- p.Lys125Ile
- rs1558230900
- ClinGen CA344206298
- ClinVar RCV000774302
- Ensembl rs1558230900
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.72
- MetaLR 0.90
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)