H28R (p.His28Arg) variant of GATA3 (P23771)
H28R (p.His28Arg) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
H28R (p.His28Arg) variant details
- p.His28Arg
- TOPMed rs957809458
- gnomAD rs957809458
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.75
- MetaLR 0.92
- MetaSVM 1.01
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available