M571I (p.Met571Ile) variant of LHCGR (P22888)
M571I (p.Met571Ile) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
M571I (p.Met571Ile) variant details
- p.Met571Ile
- rs121912519
- ClinGen CA346745029
- ClinVar RCV001886947
- Ensembl rs121912519
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- AlphaMissense 0.86
- MetaLR 0.28
- MetaSVM -0.38
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.47
- ClinVar: Pathogenic (not provided)
- 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: Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious… (PMID 8281137)