T77N (p.Thr77Asn) variant of TBX5 (T-box transcription factor TBX5)
T77N (p.Thr77Asn) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
T77N (p.Thr77Asn) variant details
- p.Thr77Asn
- TOPMed rs1871832255
- gnomAD rs1871832255
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.87
- CADD 27.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available