V18M (p.Val18Met) variant of GATA3 (P23771)
V18M (p.Val18Met) in GATA3 (P23771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypoparathyroidism, deafness, renal disease syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
V18M (p.Val18Met) variant details
- p.Val18Met
- rs1415426826
- ClinGen CA375965008
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10065
- Uncertain significance
- Hypoparathyroidism, deafness, renal disease syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.48
- MetaLR 0.81
- MetaSVM 0.65
- CADD 23.70
- PolyPhen-2 0.21
- SIFT 0.06
- ClinVar: Uncertain significance (Hypoparathyroidism, deafness, renal disease syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available