T72M (p.Thr72Met) variant of TBX5 (T-box transcription factor TBX5)
T72M (p.Thr72Met) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
T72M (p.Thr72Met) variant details
- p.Thr72Met
- TOPMed rs863223779
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.95
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available