P90S (p.Pro90Ser) variant of TNNT2 (Troponin T, cardiac muscle)
P90S (p.Pro90Ser) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature.
P90S (p.Pro90Ser) variant details
- p.Pro90Ser
- rs397516451
- ClinGen CA004170
- ClinVar RCV000036565
- ClinVar RCV000204383
- Uncertain significance
- Cardiovascular phenotype; not specified; not provided
- 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: Uncertain significance (Cardiovascular phenotype; not specified; not provided)
- 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)