A52V (p.Ala52Val) variant of TBX20 (T-box transcription factor TBX20)
A52V (p.Ala52Val) 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 0.41 / 1. The record also includes population frequency data and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- rs146370768
- ClinGen CA4217566
- ClinVar RCV003577136
- ESP rs146370768
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.08
- MetaLR 0.50
- MetaSVM -0.67
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available