T13M (p.Thr13Met) variant of TBX5 (T-box transcription factor TBX5)
T13M (p.Thr13Met) 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 0.46 / 1. The record also includes population frequency data and structural context.
T13M (p.Thr13Met) variant details
- p.Thr13Met
- NCI-TCGA Cosmic COSV5986
- cosmic curated COSV59861
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.32
- CADD 25.20
- PolyPhen-2 0.13
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available