R352T (p.Arg352Thr) variant of GATA3 (P23771)
R352T (p.Arg352Thr) 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 0.79 / 1.
R352T (p.Arg352Thr) variant details
- p.Arg352Thr
- rs1564405163
- ClinGen CA375975287
- ClinVar RCV000709930
- Ensembl rs1564405163
- Likely pathogenic
- Hypoparathyroidism, deafness, renal disease syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- MutPred 0.79
- ClinVar: Likely pathogenic (Hypoparathyroidism, deafness, renal disease syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic