A43T (p.Ala43Thr) variant of TNNI3 (Troponin I, cardiac muscle)
A43T (p.Ala43Thr) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypertrophic cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- rs727505023
- ClinGen CA407442424
- ClinVar RCV001810382
- ClinVar RCV003748364
- Conflicting interpretations
- Hypertrophic cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.45
- MetaLR 0.85
- MetaSVM 0.73
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.26
- ClinVar: Conflicting classifications of pathogenicity (Hypertrophic cardiomyopathy; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available