P80L (p.Pro80Leu) variant of GATA5 (Transcription factor GATA-5)
P80L (p.Pro80Leu) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P80L (p.Pro80Leu) variant details
- p.Pro80Leu
- rs1163716969
- ClinGen CA409557252
- ClinVar RCV004395125
- TOPMed rs1163716969
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.65
- MetaLR 0.94
- MetaSVM 1.04
- CADD 29.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available