A46P (p.Ala46Pro) variant of TNNT2 (Troponin T, cardiac muscle)
A46P (p.Ala46Pro) 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 specified; Cardiovascular phenotype; not provided. 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.
A46P (p.Ala46Pro) variant details
- p.Ala46Pro
- rs397516447
- ClinGen CA004083
- ClinVar RCV000036556
- ClinVar RCV000157535
- Conflicting interpretations
- not specified; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cardiovascular phenotype; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)