V85G (p.Val85Gly) variant of TNNT2 (Troponin T, cardiac muscle)
V85G (p.Val85Gly) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and published literature.
V85G (p.Val85Gly) variant details
- p.Val85Gly
- rs730881095
- ClinGen CA004142
- ClinVar RCV000159270
- ClinVar RCV000460783
- Uncertain significance
- Cardiovascular phenotype; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 24.10
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-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)