G82R (p.Gly82Arg) variant of TBX3 (T-box transcription factor TBX3)
G82R (p.Gly82Arg) 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 0.74 / 1. The record also includes population frequency data.
G82R (p.Gly82Arg) variant details
- p.Gly82Arg
- NCI-TCGA Cosmic COSV5747
- cosmic curated COSV57470
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.72
- CADD 27.70
- PolyPhen-2 0.35
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)