T577I (p.Thr577Ile) variant of LHCGR (P22888)
T577I (p.Thr577Ile) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Gonadotropin-independent familial sexual precocity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
T577I (p.Thr577Ile) variant details
- p.Thr577Ile
- rs121912521
- ClinGen CA123919
- cosmic curated COSV54296
- ClinVar RCV000015467
- Pathogenic/Likely pathogenic
- not provided; Gonadotropin-independent familial sexual precocity
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- AlphaMissense 0.55
- MetaLR 0.67
- MetaSVM 0.57
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic/Likely pathogenic (not provided; Gonadotropin-independent familial sexual precocity)
- EBI: Pathogenic (in FMPP)
- UniProt: Pathogenic (in FMPP)
- Structural context available
- Cited in: Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in… (PMID 7757065)
- Cited in: A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious… (PMID 8829636)