Q16K (p.Gln16Lys) variant of TNNT2 (Troponin T, cardiac muscle)
Q16K (p.Gln16Lys) 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 Dilated cardiomyopathy 1D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature.
Q16K (p.Gln16Lys) variant details
- p.Gln16Lys
- rs1660718949
- ClinGen CA028859
- ClinVar RCV001196038
- Ensembl rs1660718949
- Uncertain significance
- Dilated cardiomyopathy 1D
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- AlphaMissense 0.07
- MetaLR 0.93
- MetaSVM 0.74
- SIFT 0.01
- MutPred 0.12
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)