P33L (p.Pro33Leu) variant of TNNI3 (Troponin I, cardiac muscle)
P33L (p.Pro33Leu) 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 0.66 / 1. The record also includes population frequency data and structural context.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- rs2147285907
- ClinGen CA407442871
- ClinVar RCV002014492
- Ensembl rs2147285907
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.55
- AlphaMissense 0.39
- MetaLR 0.85
- MetaSVM 0.80
- CADD 25.00
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available