D96Y (p.Asp96Tyr) variant of TNNT2 (Troponin T, cardiac muscle)
D96Y (p.Asp96Tyr) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiomyopathy, familial restrictive, 3; Hypertrophic cardiomyopathy 2; Dilated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and published literature.
D96Y (p.Asp96Tyr) variant details
- p.Asp96Tyr
- rs1553282768
- ClinVar RCV006598172
- Ensembl rs1553282768
- Likely pathogenic
- Cardiomyopathy, familial restrictive, 3; Hypertrophic cardiomyopathy 2; Dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 0.84
- MetaLR 0.97
- MetaSVM 1.12
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Cardiomyopathy, familial restrictive, 3; Hypertrophic cardiomyop)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)