G30V (p.Gly30Val) variant of GATA3 (P23771)
G30V (p.Gly30Val) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G30V (p.Gly30Val) variant details
- p.Gly30Val
- gnomAD 10-8055744-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.68
- AlphaMissense 0.83
- MetaLR 0.63
- MetaSVM 0.08
- CADD 27.10
- PolyPhen-2 1.00
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available