E128K (p.Glu128Lys) variant of TNNT2 (Troponin T, cardiac muscle)
E128K (p.Glu128Lys) 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 TNNT2-related disorder; not provided; Cardiomyopathy, familial restrictive, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature.
E128K (p.Glu128Lys) variant details
- p.Glu128Lys
- rs397516461
- ClinGen CA004396
- ClinVar RCV000036581
- Ensembl rs397516461
- Uncertain significance
- TNNT2-related disorder; not provided; Cardiomyopathy, familial restrictive, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- AlphaMissense 0.35
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Uncertain significance (TNNT2-related disorder; not provided; Cardiomyopathy, familial r)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)