R104H (p.Arg104His) variant of TNNT2 (Troponin T, cardiac muscle)
R104H (p.Arg104His) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and published literature.
R104H (p.Arg104His) variant details
- p.Arg104His
- rs397516457
- ClinGen CA004294
- cosmic curated COSV52663
- ClinVar RCV000036575
- Likely pathogenic
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypertrophic cardiomyopathy)
- EBI: Pathogenic (in CMH2)
- UniProt: Pathogenic (in CMH2)
- 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)