H14P (p.His14Pro) variant of GATA3 (P23771)
H14P (p.His14Pro) 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.
H14P (p.His14Pro) variant details
- p.His14Pro
- Ensembl rs945635907
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.74
- MetaLR 0.87
- MetaSVM 0.71
- CADD 25.10
- PolyPhen-2 0.11
- SIFT 0.11
- Population evidence available
- Structural context available