H101Y (p.His101Tyr) variant of TNNT2 (Troponin T, cardiac muscle)
H101Y (p.His101Tyr) 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; Hypertrophic cardiomyopathy 2; Cardiomyopathy, familia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
H101Y (p.His101Tyr) variant details
- p.His101Tyr
- rs2102262282
- ClinGen CA344206593
- cosmic curated COSV10635
- ClinVar RCV001752653
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Cardiomyopathy, familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 26.40
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Cardiom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)