E33K (p.Glu33Lys) variant of TNNT2 (Troponin T, cardiac muscle)
E33K (p.Glu33Lys) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and published literature.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- rs377474357
- ClinGen CA005334
- ClinVar RCV000036314
- ClinVar RCV001451173
- Conflicting interpretations
- Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 33.00
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Conflicting classifications of pathogenicity (Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrict)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)