R276Q (p.Arg276Gln) variant of GATA3 (P23771)
R276Q (p.Arg276Gln) in GATA3 (P23771) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hypoparathyroidism, deafness, renal disease syndrome; not provided. The record also includes variant effect predictions.
R276Q (p.Arg276Gln) variant details
- p.Arg276Gln
- NCI-TCGA TCGA novel
- Ensembl rs2131500603
- Uncertain significance
- Hypoparathyroidism, deafness, renal disease syndrome; not provided
- Missense
- MetaLR 1.00
- MetaSVM 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance