H59Y (p.His59Tyr) variant of TBX5 (T-box transcription factor TBX5)
H59Y (p.His59Tyr) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
H59Y (p.His59Tyr) variant details
- p.His59Tyr
- cosmic curated COSV59861
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.75
- CADD 27.50
- PolyPhen-2 0.66
- SIFT 0.02
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available