L47H (p.Leu47His) variant of TNNI3 (Troponin I, cardiac muscle)
L47H (p.Leu47His) in TNNI3 (Troponin I, cardiac muscle) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L47H (p.Leu47His) variant details
- p.Leu47His
- gnomAD 19-55156349-GGGAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 5.17
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available