S225N (p.Ser225Asn) variant of TBX3 (T-box transcription factor TBX3)
S225N (p.Ser225Asn) in TBX3 (T-box transcription factor TBX3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TBX3-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
S225N (p.Ser225Asn) variant details
- p.Ser225Asn
- rs780398425
- ClinGen CA6810137
- ClinVar RCV003420853
- Uncertain significance
- TBX3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 23.10
- ClinVar: Uncertain significance (TBX3-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)