C287S (p.Cys287Ser) variant of GATA3 (P23771)
C287S (p.Cys287Ser) in GATA3 (P23771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypoparathyroidism, deafness, renal disease syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1.
C287S (p.Cys287Ser) variant details
- p.Cys287Ser
- rs2131500836
- ClinGen CA375973553
- ClinVar RCV003991235
- Ensembl rs2131500836
- Likely pathogenic
- Hypoparathyroidism, deafness, renal disease syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- MutPred 0.82
- ClinVar: Likely pathogenic (Hypoparathyroidism, deafness, renal disease syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic