P24Q (p.Pro24Gln) variant of GATA3 (P23771)
P24Q (p.Pro24Gln) in GATA3 (P23771) 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 0.77 / 1. The record also includes population frequency data and structural context.
P24Q (p.Pro24Gln) variant details
- p.Pro24Gln
- TOPMed rs1485724723
- gnomAD rs1485724723
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.70
- MetaLR 0.93
- MetaSVM 1.05
- CADD 27.20
- PolyPhen-2 0.87
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available