T92M (p.Thr92Met) variant of TBX5 (T-box transcription factor TBX5)
T92M (p.Thr92Met) in TBX5 (T-box transcription factor TBX5) 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 0.72 / 1. The record also includes population frequency data and structural context.
T92M (p.Thr92Met) variant details
- p.Thr92Met
- NCI-TCGA Cosmic COSV5985
- NCI-TCGA Cosmic COSV5986
- cosmic curated COSV59860
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.67
- CADD 28.50
- PolyPhen-2 0.81
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available