E50G (p.Glu50Gly) variant of GATA5 (Transcription factor GATA-5)
E50G (p.Glu50Gly) 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 provided. 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.
E50G (p.Glu50Gly) variant details
- p.Glu50Gly
- rs1989832554
- ClinGen CA409557670
- ClinVar RCV002302221
- Ensembl rs1989832554
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.27
- MetaLR 0.76
- MetaSVM -0.06
- CADD 21.80
- PolyPhen-2 0.02
- SIFT 0.63
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available