R352S (p.Arg352Ser) variant of GATA3 (P23771)
R352S (p.Arg352Ser) 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.
R352S (p.Arg352Ser) variant details
- p.Arg352Ser
- rs104894165
- ClinGen CA126739
- ClinVar RCV000018109
- gnomAD rs104894165
- Pathogenic
- Hypoparathyroidism, deafness, renal disease syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- MutPred 0.87
- ClinVar: Pathogenic (Hypoparathyroidism, deafness, renal disease syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in… (PMID 16912130)