A43G (p.Ala43Gly) variant of TNNI3 (Troponin I, cardiac muscle)
A43G (p.Ala43Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
A43G (p.Ala43Gly) variant details
- p.Ala43Gly
- rs2085732607
- ClinGen CA407442414
- ClinVar RCV001305951
- Ensembl rs2085732607
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- AlphaMissense 0.60
- MetaLR 0.88
- MetaSVM 0.93
- PolyPhen-2 0.99
- SIFT 0.03
- EVE 0.23
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available