R9H (p.Arg9His) variant of GATA3 (P23771)
R9H (p.Arg9His) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
R9H (p.Arg9His) variant details
- p.Arg9His
- cosmic curated COSV60516
- ExAC rs762722802
- TOPMed rs762722802
- gnomAD rs762722802
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.83
- MetaLR 0.96
- MetaSVM 1.10
- CADD 29.30
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available