H28Q (p.His28Gln) variant of GATA3 (P23771)
H28Q (p.His28Gln) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
H28Q (p.His28Gln) variant details
- p.His28Gln
- gnomAD 10-8055739-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.73
- MetaLR 0.93
- MetaSVM 1.06
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available