G21A (p.Gly21Ala) variant of GATA3 (P23771)
G21A (p.Gly21Ala) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G21A (p.Gly21Ala) variant details
- p.Gly21Ala
- gnomAD 10-8055717-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.48
- MetaLR 0.79
- MetaSVM 0.68
- CADD 23.00
- PolyPhen-2 0.14
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available