A114T (p.Ala114Thr) variant of TNNT2 (Troponin T, cardiac muscle)
A114T (p.Ala114Thr) 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 not provided; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and published literature.
A114T (p.Ala114Thr) variant details
- p.Ala114Thr
- rs1553282527
- ClinGen CA344206436
- ClinVar RCV000794852
- ClinVar RCV004691297
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- AlphaMissense 0.06
- MetaLR 0.70
- MetaSVM 0.01
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy 2; Dilated cardiomyopa)
- EBI: Variant of uncertain significance (in CMH2)
- UniProt: Uncertain significance (in CMH2)
- Most common in the Non-Finnish European population (allele frequency 5e-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)