K88E (p.Lys88Glu) variant of TNNT2 (Troponin T, cardiac muscle)
K88E (p.Lys88Glu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature.
K88E (p.Lys88Glu) variant details
- p.Lys88Glu
- rs1659525886
- ClinGen CA344206692
- ClinVar RCV001324900
- ClinVar RCV002447372
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- AlphaMissense 0.89
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)