E23G (p.Glu23Gly) variant of GHR (Growth hormone receptor)
E23G (p.Glu23Gly) in GHR (Growth hormone receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Laron-type isolated somatotropin defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E23G (p.Glu23Gly) variant details
- p.Glu23Gly
- rs775749224
- ClinGen CA3254290
- ClinVar RCV001152148
- ExAC rs775749224
- Uncertain significance
- Laron-type isolated somatotropin defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.17
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Laron-type isolated somatotropin defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available