P11L (p.Pro11Leu) variant of GATA6 (Transcription factor GATA-6)
P11L (p.Pro11Leu) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrioventricular septal defect 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- rs1598733637
- ClinGen CA401798335
- ClinVar RCV001961115
- TOPMed rs1598733637
- Uncertain significance
- Atrioventricular septal defect 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- AlphaMissense 0.14
- MetaLR 0.76
- MetaSVM 0.28
- PolyPhen-2 0.76
- SIFT 0.01
- MutPred 0.40
- ClinVar: Uncertain significance (Atrioventricular septal defect 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available