D578Y (p.Asp578Tyr) variant of LHCGR (P22888)
D578Y (p.Asp578Tyr) 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 0.56 / 1. The record also includes published literature and structural context.
D578Y (p.Asp578Tyr) variant details
- p.Asp578Tyr
- rs121912532
- ClinGen CA214133
- ClinVar RCV000030141
- UniProt VAR 010163
- Likely pathogenic
- Gonadotropin-independent familial sexual precocity
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- AlphaMissense 0.74
- MetaLR 0.34
- MetaSVM -0.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Gonadotropin-independent familial sexual precocity)
- EBI: Pathogenic (in FMPP)
- UniProt: Pathogenic (in FMPP)
- Structural context available
- Cited in: Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial… (PMID 7892197)
- Cited in: Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel… (PMID 11134146)