G30S (p.Gly30Ser) variant of GATA3 (P23771)
G30S (p.Gly30Ser) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- gnomAD 10-8055743-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.32
- MetaLR 0.83
- MetaSVM 0.48
- CADD 23.40
- PolyPhen-2 0.08
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available