L53P (p.Leu53Pro) variant of TNNI3 (Troponin I, cardiac muscle)
L53P (p.Leu53Pro) 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.
L53P (p.Leu53Pro) variant details
- p.Leu53Pro
- gnomAD 19-55156325-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.93
- MetaLR 0.86
- MetaSVM 0.90
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available