A34T (p.Ala34Thr) variant of TBX20 (T-box transcription factor TBX20)
A34T (p.Ala34Thr) in TBX20 (T-box transcription factor TBX20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- Ensembl rs1584361716
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.13
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available