P526L (p.Pro526Leu) variant of OCRL (Q01968)
P526L (p.Pro526Leu) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lowe syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
P526L (p.Pro526Leu) variant details
- p.Pro526Leu
- rs137853858
- ClinGen CA266162
- ClinVar RCV000059601
- UniProt VAR 023958
- Pathogenic
- Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (Lowe syndrome)
- EBI: Pathogenic (in OCRL)
- UniProt: Pathogenic (in OCRL)
- Structural context available
- Cited in: Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation… (PMID 10767176)
- Cited in: OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic… (PMID 10923037)