R493Q (p.Arg493Gln) variant of OCRL (Q01968)
R493Q (p.Arg493Gln) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lowe syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R493Q (p.Arg493Gln) variant details
- p.Arg493Gln
- rs2521906115
- ClinGen CA414616269
- ClinVar RCV003622371
- NCI-TCGA TCGA novel
- Likely pathogenic
- Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.94
- MetaLR 0.98
- MetaSVM 1.05
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Lowe syndrome)
- EBI: Likely pathogenic (in DENT2)
- UniProt: Likely pathogenic (in DENT2)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Lowe Syndrome. (PMID 20301653)