V636E (p.Val636Glu) variant of OCRL (Q01968)
V636E (p.Val636Glu) 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 0.91 / 1. The record also includes published literature and structural context.
V636E (p.Val636Glu) variant details
- p.Val636Glu
- rs1602802472
- ClinGen CA414620152
- ClinVar RCV000850187
- Ensembl rs1602802472
- Pathogenic
- Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Lowe syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Lowe Syndrome. (PMID 20301653)