D96A (p.Asp96Ala) variant of TNNT2 (Troponin T, cardiac muscle)
D96A (p.Asp96Ala) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
D96A (p.Asp96Ala) variant details
- p.Asp96Ala
- rs397516455
- ClinGen CA004228
- ClinVar RCV000036571
- ClinVar RCV000505760
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Hypertrophic cardiomyopa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.3e-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)