P33Q (p.Pro33Gln) variant of TNNI3 (Troponin I, cardiac muscle)
P33Q (p.Pro33Gln) 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 0.63 / 1. The record also includes population frequency data and structural context.
P33Q (p.Pro33Gln) variant details
- p.Pro33Gln
- rs2147285907
- ClinGen CA407442876
- ClinVar RCV001372354
- Ensembl rs2147285907
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.49
- AlphaMissense 0.39
- MetaLR 0.85
- MetaSVM 0.80
- CADD 24.90
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available