G30D (p.Gly30Asp) variant of GATA3 (P23771)
G30D (p.Gly30Asp) in GATA3 (P23771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- rs1588374874
- ClinGen CA375965176
- ClinVar RCV000821101
- ClinVar RCV002271590
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.38
- MetaLR 0.81
- MetaSVM 0.49
- CADD 24.60
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available