A42T (p.Ala42Thr) variant of TNNT2 (Troponin T, cardiac muscle)
A42T (p.Ala42Thr) 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 Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and published literature.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- rs1571649102
- ClinGen CA344207324
- ClinVar RCV000814447
- ClinVar RCV001184379
- Uncertain significance
- Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 12.30
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrict)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- 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)