S5G (p.Ser5Gly) variant of TNNI3 (Troponin I, cardiac muscle)
S5G (p.Ser5Gly) 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; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- rs2085740955
- ClinGen CA407443418
- ClinVar RCV001227637
- ClinVar RCV004679014
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.06
- MetaLR 0.32
- MetaSVM -0.53
- PolyPhen-2 0.26
- SIFT 0.27
- MutPred 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available