D170H (p.Asp170His) variant of GHR (Growth hormone receptor)
D170H (p.Asp170His) in GHR (Growth hormone receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Monogenic short statue; not provided; Laron-type isolated somatotropin defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D170H (p.Asp170His) variant details
- p.Asp170His
- rs121909366
- ClinGen CA119811
- ClinVar RCV000009185
- ClinVar RCV002508773
- Pathogenic/Likely pathogenic
- Monogenic short statue; not provided; Laron-type isolated somatotropin defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.79
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Monogenic short statue; not provided; Laron-type isolated somato)
- EBI: Pathogenic (in LARS)
- UniProt: Pathogenic (in LARS)
- Most common in the South Asian population (allele frequency 0.00014)
- Structural context available
- Cited in: A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH… (PMID 8137822)
- Cited in: Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding… (PMID 9851797)