L52P (p.Leu52Pro) variant of TNNI3 (Troponin I, cardiac muscle)
L52P (p.Leu52Pro) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
L52P (p.Leu52Pro) variant details
- p.Leu52Pro
- rs2147285030
- ClinGen CA407442102
- ClinVar RCV002050686
- Ensembl rs2147285030
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.87
- MetaLR 0.92
- MetaSVM 1.05
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available