R493W (p.Arg493Trp) variant of OCRL (Q01968)
R493W (p.Arg493Trp) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dent disease type 2; Lowe syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R493W (p.Arg493Trp) variant details
- p.Arg493Trp
- rs137853846
- ClinGen CA345320
- ClinVar RCV000059593
- ClinVar RCV006461407
- Pathogenic
- Dent disease type 2; Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Dent disease type 2; Lowe syndrome)
- EBI: Pathogenic (in DENT2)
- UniProt: Pathogenic (in DENT2)
- Structural context available
- Cited in: OCRL1 mutations in patients with Dent disease phenotype in Japan. (PMID 17384968)
- Cited in: Novel OCRL mutations in patients with Dent-2 disease. (PMID 27625797)