R500Q (p.Arg500Gln) variant of OCRL (Q01968)
R500Q (p.Arg500Gln) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Lowe syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
R500Q (p.Arg500Gln) variant details
- p.Arg500Gln
- rs137853260
- ClinGen CA255583
- NCI-TCGA Cosmic COSV6398
- cosmic curated COSV63980
- Pathogenic
- not provided; Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (not provided; Lowe syndrome)
- EBI: Pathogenic (in OCRL)
- UniProt: Pathogenic (in OCRL)
- Structural context available
- Cited in: Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation… (PMID 10767176)
- Cited in: Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different… (PMID 9632163)