G63D (p.Gly63Asp) variant of GATA5 (Transcription factor GATA-5)
G63D (p.Gly63Asp) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G63D (p.Gly63Asp) variant details
- p.Gly63Asp
- TOPMed rs1264711333
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.40
- MetaLR 0.92
- MetaSVM 0.63
- CADD 18.20
- PolyPhen-2 0.71
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available