C320S (p.Cys320Ser) variant of GATA3 (P23771)
C320S (p.Cys320Ser) in GATA3 (P23771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypoparathyroidism, deafness, renal disease syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data.
C320S (p.Cys320Ser) variant details
- p.Cys320Ser
- rs1832898282
- ClinGen CA375974885
- ClinVar RCV001089562
- Ensembl rs1832898282
- Pathogenic
- Hypoparathyroidism, deafness, renal disease syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- MutPred 0.90
- ClinVar: Pathogenic (Hypoparathyroidism, deafness, renal disease syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available