A373V (p.Ala373Val) variant of LHCGR (P22888)
A373V (p.Ala373Val) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gonadotropin-independent familial sexual precocity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
A373V (p.Ala373Val) variant details
- p.Ala373Val
- rs121912528
- ClinGen CA123926
- ClinVar RCV000015476
- UniProt VAR 003553
- Likely pathogenic
- Gonadotropin-independent familial sexual precocity
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- AlphaMissense 0.39
- MetaLR 0.88
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (Gonadotropin-independent familial sexual precocity)
- EBI: Pathogenic (in FMPP)
- UniProt: Pathogenic (in FMPP)
- Structural context available
- Cited in: A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty. (PMID 9467560)
- Cited in: Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel… (PMID 11134146)