M398T (p.Met398Thr) variant of LHCGR (P22888)
M398T (p.Met398Thr) 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 0.55 / 1. The record also includes published literature and structural context.
M398T (p.Met398Thr) variant details
- p.Met398Thr
- rs121912526
- ClinGen CA123924
- ClinVar RCV000015473
- ClinVar RCV000581515
- Likely pathogenic
- Gonadotropin-independent familial sexual precocity
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- AlphaMissense 0.66
- MetaLR 0.36
- MetaSVM 0.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Gonadotropin-independent familial sexual precocity)
- EBI: Pathogenic (in FMPP)
- UniProt: Pathogenic (in FMPP)
- Structural context available
- Cited in: A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty… (PMID 8929952)
- Cited in: Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel… (PMID 11134146)