S44A (p.Ser44Ala) variant of TNNI3 (Troponin I, cardiac muscle)
S44A (p.Ser44Ala) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiomyopathy, familial restrictive, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
S44A (p.Ser44Ala) variant details
- p.Ser44Ala
- rs2147285302
- ClinGen CA407442410
- ClinVar RCV002246776
- Ensembl rs2147285302
- Pathogenic
- Cardiomyopathy, familial restrictive, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- AlphaMissense 0.23
- MetaLR 0.85
- MetaSVM 0.72
- PolyPhen-2 0.83
- SIFT 0.23
- EVE 0.23
- ClinVar: Pathogenic (Cardiomyopathy, familial restrictive, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available