A57T (p.Ala57Thr) variant of TNNI3 (Troponin I, cardiac muscle)
A57T (p.Ala57Thr) in TNNI3 (Troponin I, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A57T (p.Ala57Thr) variant details
- p.Ala57Thr
- gnomAD 19-55156314-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.81
- MetaLR 0.96
- MetaSVM 1.10
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available