D578G (p.Asp578Gly) variant of LHCGR (P22888)
D578G (p.Asp578Gly) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gonadotropin-independent familial sexual precocity; Leydig cell agenesis; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
D578G (p.Asp578Gly) variant details
- p.Asp578Gly
- rs121912518
- ClinGen CA123916
- ClinVar RCV000015461
- ClinVar RCV000517056
- Pathogenic
- Gonadotropin-independent familial sexual precocity; Leydig cell agenesis; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- AlphaMissense 0.57
- MetaLR 0.28
- MetaSVM -0.02
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Gonadotropin-independent familial sexual precocity; Leydig cell)
- EBI: Pathogenic (in FMPP)
- UniProt: Pathogenic (in FMPP)
- Structural context available
- Cited in: A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing… (PMID 7527413)
- Cited in: Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited… (PMID 7562970)