L19F (p.Leu19Phe) variant of GATA3 (P23771)
L19F (p.Leu19Phe) in GATA3 (P23771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- rs1014542996
- ClinGen CA375965019
- ClinVar RCV003672539
- TOPMed rs1014542996
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.63
- MetaLR 0.89
- MetaSVM 0.91
- CADD 26.20
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available