K76Q (p.Lys76Gln) variant of TNNT2 (Troponin T, cardiac muscle)
K76Q (p.Lys76Gln) 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; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature.
K76Q (p.Lys76Gln) variant details
- p.Lys76Gln
- rs2102273869
- ClinGen CA344206767
- ClinVar RCV001960414
- Ensembl rs2102273869
- Uncertain significance
- Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- AlphaMissense 0.21
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.34
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardio)
- 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)