K103E (p.Lys103Glu) variant of TNNT2 (Troponin T, cardiac muscle)
K103E (p.Lys103Glu) 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 0.89 / 1.
K103E (p.Lys103Glu) variant details
- p.Lys103Glu
- rs730881122
- ClinGen CA088114
- ClinVar RCV001752181
- Ensembl rs730881122
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic