A5E (p.Ala5Glu) variant of GATA3 (P23771)
A5E (p.Ala5Glu) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A5E (p.Ala5Glu) variant details
- p.Ala5Glu
- gnomAD 10-8055669-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.52
- MetaLR 0.89
- MetaSVM 0.93
- CADD 27.30
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available