A568V (p.Ala568Val) variant of LHCGR (P22888)
A568V (p.Ala568Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
A568V (p.Ala568Val) variant details
- p.Ala568Val
- rs121912534
- ClinGen CA123933
- ClinVar RCV000015488
- UniProt VAR 003555
- Pathogenic
- Gonadotropin-independent familial sexual precocity
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.93
- MetaLR 0.74
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Gonadotropin-independent familial sexual precocity)
- EBI: Pathogenic (in FMPP)
- UniProt: Pathogenic (in FMPP)
- Structural context available
- Cited in: Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel… (PMID 11134146)
- Cited in: A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty. (PMID 7629248)