H27D (p.His27Asp) variant of GATA3 (P23771)
H27D (p.His27Asp) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
H27D (p.His27Asp) variant details
- p.His27Asp
- gnomAD 10-8055734-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.80
- MetaLR 0.93
- MetaSVM 1.05
- CADD 28.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available