L273P (p.Leu273Pro) variant of GATA3 (P23771)
L273P (p.Leu273Pro) 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 0.81 / 1.
L273P (p.Leu273Pro) variant details
- p.Leu273Pro
- rs2131500548
- ClinGen CA375973461
- ClinVar RCV003985126
- Likely pathogenic
- Hypoparathyroidism, deafness, renal disease syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- MutPred 0.81
- ClinVar: Likely pathogenic (Hypoparathyroidism, deafness, renal disease syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic