N258S (p.Asn258Ser) variant of TBX3 (T-box transcription factor TBX3)
N258S (p.Asn258Ser) 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 Ulnar-mammary syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
N258S (p.Asn258Ser) variant details
- p.Asn258Ser
- rs375420460
- ClinGen CA6810106
- cosmic curated COSV99983
- ClinVar RCV002751472
- Uncertain significance
- Ulnar-mammary syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- AlphaMissense 0.25
- MetaLR 0.68
- MetaSVM 0.42
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Uncertain significance (Ulnar-mammary syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available