R131Q (p.Arg131Gln) variant of TBX3 (T-box transcription factor TBX3)
R131Q (p.Arg131Gln) 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 0.85 / 1. The record also includes population frequency data.
R131Q (p.Arg131Gln) variant details
- p.Arg131Gln
- NCI-TCGA Cosmic COSV5747
- cosmic curated COSV57476
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.87
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:FRENCH population (allele frequency 0.019)