G27D (p.Gly27Asp) variant of GATA5 (Transcription factor GATA-5)
G27D (p.Gly27Asp) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G27D (p.Gly27Asp) variant details
- p.Gly27Asp
- rs930857802
- ClinGen CA317288659
- ClinVar RCV001954138
- ClinVar RCV005572752
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.48
- MetaLR 0.86
- MetaSVM 0.45
- CADD 19.00
- PolyPhen-2 0.13
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available