T4S (p.Thr4Ser) variant of TBX20 (T-box transcription factor TBX20)
T4S (p.Thr4Ser) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T4S (p.Thr4Ser) variant details
- p.Thr4Ser
- rs147393830
- ClinGen CA4217621
- ClinVar RCV001293137
- ClinVar RCV001879971
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.40
- CADD 22.40
- PolyPhen-2 0.33
- SIFT 0.32
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Primary dilated cardiomy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)