E32G (p.Glu32Gly) variant of TNNI3 (Troponin I, cardiac muscle)
E32G (p.Glu32Gly) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E32G (p.Glu32Gly) variant details
- p.Glu32Gly
- rs2515503663
- ClinGen CA407442900
- ClinVar RCV003384115
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.57
- MetaLR 0.79
- MetaSVM 0.68
- CADD 23.60
- PolyPhen-2 0.29
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available