G70S (p.Gly70Ser) variant of TBX20 (T-box transcription factor TBX20)
G70S (p.Gly70Ser) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
G70S (p.Gly70Ser) variant details
- p.Gly70Ser
- rs1584359977
- ClinGen CA367265259
- ClinVar RCV000853146
- Ensembl rs1584359977
- Uncertain significance
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- AlphaMissense 0.06
- MetaLR 0.44
- MetaSVM -0.70
- PolyPhen-2 0.00
- SIFT 0.34
- MutPred 0.19
- ClinVar: Uncertain significance (Primary dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)