C263S (p.Cys263Ser) variant of GATA3 (P23771)
C263S (p.Cys263Ser) 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 0.80 / 1.
C263S (p.Cys263Ser) variant details
- p.Cys263Ser
- rs767074039
- ClinGen CA375973395
- cosmic curated COSV60517
- ClinVar RCV001251506
- Pathogenic
- Hypoparathyroidism, deafness, renal disease syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- MutPred 0.80
- ClinVar: Pathogenic (Hypoparathyroidism, deafness, renal disease syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic