W187R (p.Trp187Arg) variant of GHR (Growth hormone receptor)
W187R (p.Trp187Arg) in GHR (Growth hormone receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Short stature due to partial GHR deficiency. The record also includes structural context.
W187R (p.Trp187Arg) variant details
- p.Trp187Arg
- rs886037910
- ClinGen CA10586364
- ClinVar RCV000240723
- Ensembl rs886037910
- Pathogenic
- Short stature due to partial GHR deficiency
- Missense
- ClinVar: Pathogenic (Short stature due to partial GHR deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available