P29A (p.Pro29Ala) variant of GATA3 (P23771)
P29A (p.Pro29Ala) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P29A (p.Pro29Ala) variant details
- p.Pro29Ala
- gnomAD 10-8055740-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.52
- MetaLR 0.81
- MetaSVM 0.62
- CADD 22.70
- PolyPhen-2 0.12
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available