E62K (p.Glu62Lys) variant of TNNI3 (Troponin I, cardiac muscle)
E62K (p.Glu62Lys) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E62K (p.Glu62Lys) variant details
- p.Glu62Lys
- rs1357844466
- ClinGen CA407441938
- ClinVar RCV000530156
- ClinVar RCV000786225
- Uncertain significance
- Hypertrophic cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- AlphaMissense 0.27
- MetaLR 0.78
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.31
- EVE 0.19
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available