P33T (p.Pro33Thr) variant of TNNI3 (Troponin I, cardiac muscle)
P33T (p.Pro33Thr) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P33T (p.Pro33Thr) variant details
- p.Pro33Thr
- rs1379608043
- ClinGen CA407442886
- ClinVar RCV001772780
- gnomAD rs1379608043
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.57
- MetaLR 0.81
- MetaSVM 0.80
- CADD 21.40
- PolyPhen-2 0.43
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available