T38A (p.Thr38Ala) variant of TBX20 (T-box transcription factor TBX20)
T38A (p.Thr38Ala) in TBX20 (T-box transcription factor TBX20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
T38A (p.Thr38Ala) variant details
- p.Thr38Ala
- gnomAD rs1424012334
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.48
- CADD 24.90
- PolyPhen-2 0.90
- SIFT 0.69
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available