E23K (p.Glu23Lys) variant of TNNT2 (Troponin T, cardiac muscle)
E23K (p.Glu23Lys) 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; Dilated cardiomyopathy 1D; Cardiomyopathy, famili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and published literature.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- rs772966842
- ClinGen CA077330
- ClinVar RCV001205175
- ExAC rs772966842
- Uncertain significance
- Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 39.00
- PolyPhen-2 0.07
- SIFT 0.01
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)