V18A (p.Val18Ala) variant of GATA3 (P23771)
V18A (p.Val18Ala) 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 0.65 / 1. The record also includes population frequency data and structural context.
V18A (p.Val18Ala) variant details
- p.Val18Ala
- TOPMed rs985445864
- gnomAD rs985445864
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.57
- MetaLR 0.88
- MetaSVM 0.85
- CADD 29.10
- PolyPhen-2 0.54
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available