A28T (p.Ala28Thr) variant of TNNI3 (Troponin I, cardiac muscle)
A28T (p.Ala28Thr) 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 Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- rs2147285950
- ClinGen CA407442964
- ClinVar RCV002037156
- NCI-TCGA TCGA novel
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.29
- MetaLR 0.42
- MetaSVM -0.20
- CADD 23.70
- PolyPhen-2 0.53
- SIFT 0.08
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available