K118R (p.Lys118Arg) variant of TBX3 (T-box transcription factor TBX3)
K118R (p.Lys118Arg) 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 0.58 / 1. The record also includes population frequency data.
K118R (p.Lys118Arg) variant details
- p.Lys118Arg
- NCI-TCGA Cosmic COSV9998
- cosmic curated COSV99983
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.51
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)