G48A (p.Gly48Ala) variant of GATA5 (Transcription factor GATA-5)
G48A (p.Gly48Ala) 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 0.35 / 1. The record also includes population frequency data and structural context.
G48A (p.Gly48Ala) variant details
- p.Gly48Ala
- gnomAD rs869025434
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.30
- MetaLR 0.77
- MetaSVM 0.08
- CADD 9.76
- PolyPhen-2 0.00
- SIFT 0.81
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available