R9L (p.Arg9Leu) variant of GATA3 (P23771)
R9L (p.Arg9Leu) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- ExAC rs762722802
- TOPMed rs762722802
- gnomAD rs762722802
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.91
- MetaLR 0.95
- MetaSVM 1.08
- CADD 32.00
- PolyPhen-2 0.77
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available