H187Y (p.His187Tyr) variant of TBX3 (T-box transcription factor TBX3)
H187Y (p.His187Tyr) 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 0.89 / 1. The record also includes population frequency data.
H187Y (p.His187Tyr) variant details
- p.His187Tyr
- NCI-TCGA Cosmic COSV5746
- cosmic curated COSV57468
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.95
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)