I121N (p.Ile121Asn) variant of TBX20 (T-box transcription factor TBX20)
I121N (p.Ile121Asn) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
I121N (p.Ile121Asn) variant details
- p.Ile121Asn
- rs1256735922
- ClinGen CA367264916
- ClinVar RCV003040227
- TOPMed rs1256735922
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance (in ASD4)
- UniProt: Uncertain significance (in ASD4)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available