R82Q (p.Arg82Gln) variant of TBX5 (T-box transcription factor TBX5)
R82Q (p.Arg82Gln) 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 0.88 / 1. The record also includes population frequency data and structural context.
R82Q (p.Arg82Gln) variant details
- p.Arg82Gln
- NCI-TCGA Cosmic COSV5986
- cosmic curated COSV59865
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.90
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available