S79L (p.Ser79Leu) variant of TNNT2 (Troponin T, cardiac muscle)
S79L (p.Ser79Leu) 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 not provided; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and published literature.
S79L (p.Ser79Leu) variant details
- p.Ser79Leu
- rs761953142
- ClinGen CA088538
- cosmic curated COSV52661
- ClinVar RCV000996106
- Conflicting interpretations
- not provided; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- AlphaMissense 0.20
- MetaLR 0.96
- MetaSVM 0.97
- CADD 8.19
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hypertrophic cardiomyopathy 2; Dilated cardiomyopa)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)