H33P (p.His33Pro) variant of GATA3 (P23771)
H33P (p.His33Pro) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
H33P (p.His33Pro) variant details
- p.His33Pro
- gnomAD 10-8055753-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.87
- MetaLR 0.93
- MetaSVM 1.05
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available