R318C (p.Arg318Cys) variant of OCRL (Q01968)
R318C (p.Arg318Cys) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Lowe syndrome; Dent disease type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
R318C (p.Arg318Cys) variant details
- p.Arg318Cys
- rs137853263
- ClinGen CA266168
- NCI-TCGA Cosmic COSV6398
- cosmic curated COSV63980
- Pathogenic/Likely pathogenic
- Lowe syndrome; Dent disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic/Likely pathogenic (Lowe syndrome; Dent disease type 2; not provided)
- EBI: Pathogenic (in DENT2 and OCRL)
- UniProt: Pathogenic (in DENT2 and OCRL)
- Structural context available
- Cited in: Dent Disease with mutations in OCRL1. (PMID 15627218)
- Cited in: OCRL1 mutations in patients with Dent disease phenotype in Japan. (PMID 17384968)