P18T (p.Pro18Thr) variant of TNNI3 (Troponin I, cardiac muscle)
P18T (p.Pro18Thr) 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 0.54 / 1. The record also includes population frequency data and structural context.
P18T (p.Pro18Thr) variant details
- p.Pro18Thr
- rs779416591
- ClinGen CA051703
- ClinVar RCV001858852
- ExAC rs779416591
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.36
- MetaLR 0.87
- MetaSVM 0.87
- CADD 23.80
- PolyPhen-2 0.74
- SIFT 0.06
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available