A17S (p.Ala17Ser) variant of GATA3 (P23771)
A17S (p.Ala17Ser) in GATA3 (P23771) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- TOPMed rs1170316331
- gnomAD rs1170316331
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.53
- MetaLR 0.82
- MetaSVM 0.61
- CADD 23.10
- PolyPhen-2 0.15
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Structural context available