P29Q (p.Pro29Gln) variant of GATA3 (P23771)
P29Q (p.Pro29Gln) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P29Q (p.Pro29Gln) variant details
- p.Pro29Gln
- gnomAD 10-8055741-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.57
- AlphaMissense 0.36
- MetaLR 0.45
- MetaSVM -0.39
- CADD 24.50
- PolyPhen-2 0.81
- Most common in the East Asian population (allele frequency 5.3e-05)
- Structural context available
- Literature evidence available