A57E (p.Ala57Glu) variant of TNNI3 (Troponin I, cardiac muscle)
A57E (p.Ala57Glu) in TNNI3 (Troponin I, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A57E (p.Ala57Glu) variant details
- p.Ala57Glu
- rs201422579
- gnomAD 19-55156276-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.29
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available