C287W (p.Cys287Trp) variant of GATA3 (P23771)
C287W (p.Cys287Trp) 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 0.86 / 1. The record also includes published literature.
C287W (p.Cys287Trp) variant details
- p.Cys287Trp
- rs746122348
- ClinGen CA375973554
- ClinVar RCV001527690
- ExAC rs746122348
- Pathogenic
- Hypoparathyroidism, deafness, renal disease syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- MutPred 0.86
- ClinVar: Pathogenic (Hypoparathyroidism, deafness, renal disease syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and… (PMID 28566604)