P33R (p.Pro33Arg) variant of TNNI3 (Troponin I, cardiac muscle)
P33R (p.Pro33Arg) 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 0.74 / 1. The record also includes structural context.
P33R (p.Pro33Arg) variant details
- p.Pro33Arg
- rs2147285907
- ClinGen CA407442875
- ClinVar RCV004008018
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- AlphaMissense 0.39
- MetaLR 0.85
- MetaSVM 0.80
- PolyPhen-2 0.99
- SIFT 0.09
- MutPred 0.22
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available