P95H (p.Pro95His) variant of TBX3 (T-box transcription factor TBX3)
P95H (p.Pro95His) 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 0.67 / 1. The record also includes population frequency data.
P95H (p.Pro95His) variant details
- p.Pro95His
- NCI-TCGA TCGA novel
- Ensembl rs2121158772
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.56
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)