T48I (p.Thr48Ile) variant of TNNT2 (Troponin T, cardiac muscle)
T48I (p.Thr48Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and published literature.
T48I (p.Thr48Ile) variant details
- p.Thr48Ile
- rs2102283440
- ClinGen CA344207251
- ClinVar RCV002471427
- ClinVar RCV004007472
- Uncertain significance
- Hypertrophic cardiomyopathy 2; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.0981
- CADD 5.50
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 2; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)