P90T (p.Pro90Thr) variant of TNNT2 (Troponin T, cardiac muscle)
P90T (p.Pro90Thr) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature.
P90T (p.Pro90Thr) variant details
- p.Pro90Thr
- rs397516451
- ClinGen CA004164
- ClinVar RCV000159273
- ClinVar RCV001798538
- Conflicting interpretations
- Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.78
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Conflicting classifications of pathogenicity (Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardio)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)