N20S (p.Asn20Ser) variant of GATA3 (P23771)
N20S (p.Asn20Ser) in GATA3 (P23771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypoparathyroidism, deafness, renal disease syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
N20S (p.Asn20Ser) variant details
- p.Asn20Ser
- cosmic curated COSV10582
- TOPMed rs1355554271
- gnomAD rs1355554271
- Uncertain significance
- Hypoparathyroidism, deafness, renal disease syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.50
- MetaLR 0.80
- MetaSVM 0.66
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.05
- ClinVar: Uncertain significance (Hypoparathyroidism, deafness, renal disease syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00016)
- Structural context available