V18L (p.Val18Leu) variant of GATA3 (P23771)
V18L (p.Val18Leu) in GATA3 (P23771) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
V18L (p.Val18Leu) variant details
- p.Val18Leu
- TOPMed rs1415426826
- gnomAD rs1415426826
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.35
- MetaLR 0.81
- MetaSVM 0.50
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available