R256K (p.Arg256Lys) variant of TBX3 (T-box transcription factor TBX3)
R256K (p.Arg256Lys) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
R256K (p.Arg256Lys) variant details
- p.Arg256Lys
- rs1372907987
- NCI-TCGA Cosmic COSV5747
- cosmic curated COSV57474
- gnomAD rs1372907987
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- AlphaMissense 0.89
- MetaLR 0.70
- MetaSVM 0.23
- PolyPhen-2 0.56
- SIFT 0.19
- MutPred 0.55
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available