A43S (p.Ala43Ser) variant of TNNI3 (Troponin I, cardiac muscle)
A43S (p.Ala43Ser) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
A43S (p.Ala43Ser) variant details
- p.Ala43Ser
- rs727505023
- ClinGen CA021272
- ClinVar RCV000156448
- ClinVar RCV004019879
- Uncertain significance
- Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.39
- MetaLR 0.79
- MetaSVM 0.52
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.47
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available