N20K (p.Asn20Lys) variant of GATA3 (P23771)
N20K (p.Asn20Lys) 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 0.56 / 1. The record also includes population frequency data and structural context.
N20K (p.Asn20Lys) variant details
- p.Asn20Lys
- gnomAD rs1208325486
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.58
- MetaLR 0.85
- MetaSVM 0.67
- CADD 23.30
- PolyPhen-2 0.42
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- Structural context available