P23L (p.Pro23Leu) variant of TBX5 (T-box transcription factor TBX5)
P23L (p.Pro23Leu) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- 1000Genomes rs141609745
- ESP rs141609745
- ExAC rs141609745
- TOPMed rs141609745
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.19
- CADD 23.40
- PolyPhen-2 0.04
- SIFT 0.12
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available