D578N (p.Asp578Asn) variant of LHCGR (P22888)
D578N (p.Asp578Asn) 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; Leydig cell agenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D578N (p.Asp578Asn) variant details
- p.Asp578Asn
- rs121912532
- NCI-TCGA Cosmic COSV5429
- cosmic curated COSV54297
- ExAC rs121912532
- Likely pathogenic
- Gonadotropin-independent familial sexual precocity; Leydig cell agenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.19
- AlphaMissense 0.74
- MetaLR 0.34
- MetaSVM -0.02
- CADD 22.90
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Gonadotropin-independent familial sexual precocity; Leydig cell)
- EBI: Pathogenic (in FMPP)
- UniProt: Pathogenic (in FMPP)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available