H524Q (p.His524Gln) variant of OCRL (Q01968)
H524Q (p.His524Gln) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lowe syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
H524Q (p.His524Gln) variant details
- p.His524Gln
- rs137853261
- ClinGen CA255585
- ClinVar RCV000011606
- UniProt VAR 010184
- Pathogenic
- Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.989
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Lowe syndrome)
- EBI: Pathogenic (in OCRL)
- UniProt: Pathogenic (in OCRL)
- Structural context available
- Cited in: Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different… (PMID 9632163)
- Cited in: Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation… (PMID 10767176)