D391N (p.Asp391Asn) variant of TBX3 (T-box transcription factor TBX3)
D391N (p.Asp391Asn) in TBX3 (T-box transcription factor TBX3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
D391N (p.Asp391Asn) variant details
- p.Asp391Asn
- rs1180836314
- NCI-TCGA Cosmic COSV5747
- cosmic curated COSV57475
- TOPMed rs1180836314
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- AlphaMissense 0.13
- MetaLR 0.60
- MetaSVM -0.12
- PolyPhen-2 0.01
- SIFT 0.33
- MutPred 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available