A593P (p.Ala593Pro) variant of LHCGR (P22888)
A593P (p.Ala593Pro) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Leydig cell agenesis; Luteinizing hormone resistance, female. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A593P (p.Ala593Pro) variant details
- p.Ala593Pro
- rs121912520
- ClinGen CA123918
- ClinVar RCV000015465
- ClinVar RCV000015466
- Pathogenic
- Leydig cell agenesis; Luteinizing hormone resistance, female
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- AlphaMissense 0.85
- MetaLR 0.38
- MetaSVM -0.10
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.80
- ClinVar: Pathogenic (Leydig cell agenesis; Luteinizing hormone resistance, female)
- EBI: Pathogenic (in LHR)
- UniProt: Pathogenic (in LHR)
- Population evidence available
- Structural context available
- Cited in: Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. (PMID 7719343)
- Cited in: An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female. (PMID 8923827)