A109S (p.Ala109Ser) variant of TBX3 (T-box transcription factor TBX3)
A109S (p.Ala109Ser) 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 0.53 / 1. The record also includes population frequency data.
A109S (p.Ala109Ser) variant details
- p.Ala109Ser
- NCI-TCGA Cosmic COSV9998
- cosmic curated COSV99984
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.46
- CADD 22.50
- PolyPhen-2 0.08
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)