T82A (p.Thr82Ala) variant of TBX20 (T-box transcription factor TBX20)
T82A (p.Thr82Ala) in TBX20 (T-box transcription factor TBX20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
T82A (p.Thr82Ala) variant details
- p.Thr82Ala
- TOPMed rs1790274812
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.47
- AlphaMissense 0.10
- MetaLR 0.66
- MetaSVM 0.10
- CADD 23.60
- PolyPhen-2 0.96
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available