P28L (p.Pro28Leu) variant of GATA6 (Transcription factor GATA-6)
P28L (p.Pro28Leu) 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 GATA6-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- rs1483404102
- ClinGen CA401798579
- ClinVar RCV003408448
- gnomAD rs1483404102
- Uncertain significance
- GATA6-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.56
- CADD 24.60
- PolyPhen-2 0.64
- SIFT 0.00
- ClinVar: Uncertain significance (GATA6-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available