R318H (p.Arg318His) variant of OCRL (Q01968)
R318H (p.Arg318His) 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; OCRL-related disorder; Dent disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
R318H (p.Arg318His) variant details
- p.Arg318His
- rs2124405779
- ClinGen CA414552473
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10084
- Pathogenic/Likely pathogenic
- Lowe syndrome; OCRL-related disorder; Dent disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- AlphaMissense 0.72
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Pathogenic/Likely pathogenic (Lowe syndrome; OCRL-related disorder; Dent disease type 2)
- EBI: Pathogenic (in DENT2 and OCRL)
- UniProt: Pathogenic (in DENT2 and OCRL)
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)
- Cited in: Lowe Syndrome. (PMID 20301653)