S2R (p.Ser2Arg) variant of TBX3 (T-box transcription factor TBX3)
S2R (p.Ser2Arg) 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 0.26 / 1. The record also includes population frequency data.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- NCI-TCGA Cosmic COSV9998
- cosmic curated COSV99984
- Ensembl rs1869023666
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.20
- CADD 22.90
- PolyPhen-2 0.29
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)