S29C (p.Ser29Cys) variant of TBX20 (T-box transcription factor TBX20)
S29C (p.Ser29Cys) 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 not provided; Atrial septal defect 4; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S29C (p.Ser29Cys) variant details
- p.Ser29Cys
- rs13237089
- ClinGen CA4217602
- ClinVar RCV001538993
- ClinVar RCV002449361
- Uncertain significance
- not provided; Atrial septal defect 4; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.29
- AlphaMissense 0.06
- MetaLR 0.49
- MetaSVM 0.02
- CADD 23.70
- PolyPhen-2 0.76
- ClinVar: Uncertain significance (not provided; Atrial septal defect 4; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available