L19H (p.Leu19His) variant of GATA3 (P23771)
L19H (p.Leu19His) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L19H (p.Leu19His) variant details
- p.Leu19His
- gnomAD 10-8055711-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.76
- MetaLR 0.92
- MetaSVM 0.99
- CADD 25.70
- PolyPhen-2 0.19
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available