S44L (p.Ser44Leu) variant of TNNI3 (Troponin I, cardiac muscle)
S44L (p.Ser44Leu) 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 0.76 / 1. The record also includes population frequency data and structural context.
S44L (p.Ser44Leu) variant details
- p.Ser44Leu
- rs730881085
- ClinGen CA407442404
- ClinVar RCV004525332
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.68
- AlphaMissense 0.89
- MetaLR 0.90
- MetaSVM 1.00
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available