L52M (p.Leu52Met) variant of TNNI3 (Troponin I, cardiac muscle)
L52M (p.Leu52Met) in TNNI3 (Troponin I, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L52M (p.Leu52Met) variant details
- p.Leu52Met
- gnomAD 19-55156329-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.70
- MetaLR 0.92
- MetaSVM 1.04
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available