W34* (p.Trp34Ter) variant of GHR (Growth hormone receptor)
W34* (p.Trp34Ter) in GHR (Growth hormone receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
W34* (p.Trp34Ter) variant details
- p.Trp34Ter
- rs121909370
- ClinGen CA119813
- ClinVar RCV000009189
- ClinVar RCV003398476
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 15.50
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Cited in: Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron… (PMID 12679461)