T92A (p.Thr92Ala) variant of TBX5 (T-box transcription factor TBX5)
T92A (p.Thr92Ala) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
T92A (p.Thr92Ala) variant details
- p.Thr92Ala
- gnomAD rs1187125731
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.31
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available