A4S (p.Ala4Ser) variant of TBX5 (T-box transcription factor TBX5)
A4S (p.Ala4Ser) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD rs1319312312
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.24
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.63
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available