H33L (p.His33Leu) variant of GATA3 (P23771)
H33L (p.His33Leu) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
H33L (p.His33Leu) variant details
- p.His33Leu
- TOPMed rs966936841
- gnomAD rs966936841
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.90
- MetaLR 0.94
- MetaSVM 1.07
- CADD 29.70
- PolyPhen-2 0.80
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available