I28V (p.Ile28Val) variant of GHR (Growth hormone receptor)
I28V (p.Ile28Val) in GHR (Growth hormone receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Laron-type isolated somatotropin defect; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
I28V (p.Ile28Val) variant details
- p.Ile28Val
- rs143287692
- ClinGen CA3254307
- cosmic curated COSV50135
- ClinVar RCV000913004
- Conflicting interpretations
- Laron-type isolated somatotropin defect; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.14
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Laron-type isolated somatotropin defect; not provided; Inborn ge)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0081)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)