A52P (p.Ala52Pro) variant of TBX20 (T-box transcription factor TBX20)
A52P (p.Ala52Pro) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
A52P (p.Ala52Pro) variant details
- p.Ala52Pro
- rs868663228
- ClinGen CA156929434
- ClinVar RCV003038281
- gnomAD rs868663228
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.09
- MetaLR 0.45
- MetaSVM -0.64
- PolyPhen-2 0.00
- SIFT 0.27
- MutPred 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available