L368P (p.Leu368Pro) variant of LHCGR (P22888)
L368P (p.Leu368Pro) 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 0.60 / 1. The record also includes published literature and structural context.
L368P (p.Leu368Pro) variant details
- p.Leu368Pro
- rs121912533
- ClinGen CA123932
- ClinVar RCV000015487
- UniProt VAR 062338
- Pathogenic
- Gonadotropin-independent familial sexual precocity
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- AlphaMissense 0.33
- MetaLR 0.75
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.19
- 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: Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty. (PMID 11391350)