L47P (p.Leu47Pro) variant of TNNI3 (Troponin I, cardiac muscle)
L47P (p.Leu47Pro) in TNNI3 (Troponin I, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L47P (p.Leu47Pro) variant details
- p.Leu47Pro
- gnomAD 19-55156330-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 13.40
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available