A114V (p.Ala114Val) variant of TNNT2 (Troponin T, cardiac muscle)
A114V (p.Ala114Val) 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 Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and published literature.
A114V (p.Ala114Val) variant details
- p.Ala114Val
- rs727504245
- ClinGen CA004337
- cosmic curated COSV52664
- ClinVar RCV000476946
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1D
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- AlphaMissense 0.17
- MetaLR 0.90
- MetaSVM 0.63
- CADD 25.00
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1)
- EBI: Pathogenic (in CMH2)
- UniProt: Pathogenic (in CMH2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Cited in: Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy. (PMID 9140840)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)