W274R (p.Trp274Arg) variant of GATA3 (P23771)
W274R (p.Trp274Arg) 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 0.87 / 1. The record also includes published literature.
W274R (p.Trp274Arg) variant details
- p.Trp274Arg
- rs104894163
- ClinGen CA126734
- ClinVar RCV000018103
- UniProt VAR 017818
- Pathogenic
- Hypoparathyroidism, deafness, renal disease syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- MutPred 0.87
- ClinVar: Pathogenic (Hypoparathyroidism, deafness, renal disease syndrome)
- EBI: Pathogenic (in HDR)
- UniProt: Pathogenic (in HDR)
- Cited in: GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. (PMID 11389161)
- Cited in: GATA3 haplo-insufficiency causes human HDR syndrome. (PMID 10935639)