H15L (p.His15Leu) variant of GATA3 (P23771)
H15L (p.His15Leu) 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 and structural context.
H15L (p.His15Leu) variant details
- p.His15Leu
- gnomAD rs978374011
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.88
- MetaLR 0.91
- MetaSVM 0.98
- CADD 29.10
- PolyPhen-2 0.60
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available