A2E (p.Ala2Glu) variant of TNNI3 (Troponin I, cardiac muscle)
A2E (p.Ala2Glu) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- NCI-TCGA Cosmic COSV1007
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.33
- MetaLR 0.82
- MetaSVM 0.13
- CADD 22.60
- PolyPhen-2 0.25
- SIFT 0.04
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- UniProt: Uncertain significance (in CMD2A)
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available