Q172P (p.Gln172Pro) variant of GHR (Growth hormone receptor)
Q172P (p.Gln172Pro) in GHR (Growth hormone receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Laron-type isolated somatotropin defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Q172P (p.Gln172Pro) variant details
- p.Gln172Pro
- rs121909368
- ClinGen CA119804
- ClinVar RCV000009177
- UniProt VAR 018432
- Pathogenic
- Laron-type isolated somatotropin defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.84
- CADD 24.40
- PolyPhen-2 0.95
- SIFT 0.04
- ClinVar: Pathogenic (Laron-type isolated somatotropin defect)
- EBI: Pathogenic (in LARS)
- UniProt: Pathogenic (in LARS)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding… (PMID 9851797)
- Cited in: Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation. (PMID 10870033)