C341Y (p.Cys341Tyr) variant of GATA3 (P23771)
C341Y (p.Cys341Tyr) 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 0.91 / 1. The record also includes published literature.
C341Y (p.Cys341Tyr) variant details
- p.Cys341Tyr
- rs387906621
- ClinGen CA128561
- ClinVar RCV000022539
- Ensembl rs387906621
- Pathogenic
- Hypoparathyroidism, deafness, renal disease syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- MutPred 0.91
- ClinVar: Pathogenic (Hypoparathyroidism, deafness, renal disease syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: A new case of HDR syndrome with severe female genital tract malformation: comment on "Novel mutation in the gene… (PMID 21834031)