H524R (p.His524Arg) variant of OCRL (Q01968)
H524R (p.His524Arg) 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 0.99 / 1. The record also includes published literature and structural context.
H524R (p.His524Arg) variant details
- p.His524Arg
- rs137853852
- ClinGen CA266161
- ClinVar RCV000059600
- UniProt VAR 010185
- Likely pathogenic
- Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Likely pathogenic (Lowe syndrome)
- EBI: Pathogenic (in OCRL)
- UniProt: Pathogenic (in OCRL)
- Structural context available
- Cited in: Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. (PMID 9199559)
- Cited in: Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation… (PMID 10767176)