E62G (p.Glu62Gly) variant of TNNI3 (Troponin I, cardiac muscle)
E62G (p.Glu62Gly) 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 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
E62G (p.Glu62Gly) variant details
- p.Glu62Gly
- Ensembl rs2085729352
- Uncertain significance
- Hypertrophic cardiomyopathy 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.85
- MetaLR 0.90
- MetaSVM 1.00
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available