L135R (p.Leu135Arg) variant of TBX5 (T-box transcription factor TBX5)
L135R (p.Leu135Arg) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial atrioventricular septal defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
L135R (p.Leu135Arg) variant details
- p.Leu135Arg
- rs1057519050
- ClinGen CA16044038
- ClinVar RCV000416326
- Ensembl rs1057519050
- Likely pathogenic
- Familial atrioventricular septal defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 0.99
- MetaLR 0.78
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Likely pathogenic (Familial atrioventricular septal defect)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available