L19V (p.Leu19Val) variant of GATA3 (P23771)
L19V (p.Leu19Val) 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 0.62 / 1. The record also includes population frequency data and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- TOPMed rs1014542996
- gnomAD rs1014542996
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.46
- MetaLR 0.86
- MetaSVM 0.70
- CADD 23.60
- PolyPhen-2 0.19
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available