L457R (p.Leu457Arg) variant of LHCGR (P22888)
L457R (p.Leu457Arg) 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 0.91 / 1. The record also includes published literature and structural context.
L457R (p.Leu457Arg) variant details
- p.Leu457Arg
- rs121912535
- ClinGen CA123934
- ClinVar RCV000015489
- UniProt VAR 010156
- Pathogenic
- Gonadotropin-independent familial sexual precocity
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 0.73
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Gonadotropin-independent familial sexual precocity)
- EBI: Pathogenic (in FMPP)
- UniProt: Pathogenic (in FMPP)
- Structural context available
- Cited in: A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes… (PMID 9661624)
- Cited in: Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel… (PMID 11134146)