H119Y (p.His119Tyr) variant of TNNT2 (Troponin T, cardiac muscle)
H119Y (p.His119Tyr) 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 0.84 / 1.
H119Y (p.His119Tyr) variant details
- p.His119Tyr
- rs397516460
- ClinGen CA004375
- ClinVar RCV000036580
- ClinVar RCV004017308
- Conflicting interpretations
- Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- AlphaMissense 0.94
- MetaLR 0.89
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Conflicting classifications of pathogenicity (Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance