P83S (p.Pro83Ser) variant of TBX3 (T-box transcription factor TBX3)
P83S (p.Pro83Ser) 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 0.42 / 1. The record also includes population frequency data.
P83S (p.Pro83Ser) variant details
- p.Pro83Ser
- NCI-TCGA Cosmic COSV5747
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.25
- CADD 22.90
- PolyPhen-2 0.20
- SIFT 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)