A38T (p.Ala38Thr) variant of TNNT2 (Troponin T, cardiac muscle)
A38T (p.Ala38Thr) 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 Cardiomyopathy; Cardiomyopathy, familial restrictive, 3; Hypertrophic cardiomyop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and published literature.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- rs770771962
- ClinGen CA088724
- ClinVar RCV003785578
- ClinVar RCV004805065
- Uncertain significance
- Cardiomyopathy; Cardiomyopathy, familial restrictive, 3; Hypertrophic cardiomyop
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiomyopathy, familial restrictive, 3; Hypertr)
- EBI: Variant of uncertain significance (in CMH2)
- UniProt: Uncertain significance (in CMH2)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)