D564G (p.Asp564Gly) variant of LHCGR (P22888)
D564G (p.Asp564Gly) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Gonadotropin-independent familial sexual precocity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
D564G (p.Asp564Gly) variant details
- p.Asp564Gly
- rs121912540
- ClinGen CA123935
- ClinVar RCV000015493
- ClinVar RCV000712217
- Pathogenic
- not provided; Gonadotropin-independent familial sexual precocity
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- AlphaMissense 0.52
- MetaLR 0.35
- MetaSVM 0.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (not provided; Gonadotropin-independent familial sexual precocity)
- EBI: Pathogenic (in FMPP)
- UniProt: Pathogenic (in FMPP)
- Structural context available
- Cited in: Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty. (PMID 11391350)
- Cited in: Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel… (PMID 11134146)