D564V (p.Asp564Val) variant of LHCGR (P22888)
D564V (p.Asp564Val) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gonadotropin-independent familial sexual precocity; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
D564V (p.Asp564Val) variant details
- p.Asp564Val
- rs121912540
- ClinGen CA346745190
- ClinVar RCV001949425
- ClinVar RCV005925362
- Pathogenic
- Gonadotropin-independent familial sexual precocity; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- AlphaMissense 0.52
- MetaLR 0.35
- MetaSVM 0.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (Gonadotropin-independent familial sexual precocity; not provided)
- EBI: Pathogenic (in a breast cancer sample)
- UniProt: Pathogenic (in a breast cancer sample)
- Structural context available