H660P (p.His660Pro) variant of OCRL (Q01968)
H660P (p.His660Pro) 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 0.47 / 1. The record also includes published literature and structural context.
H660P (p.His660Pro) variant details
- p.His660Pro
- rs1602802640
- ClinGen CA414621105
- ClinVar RCV000850186
- Ensembl rs1602802640
- Likely pathogenic
- Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- AlphaMissense 0.99
- MetaLR 0.17
- MetaSVM -0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (Lowe syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Lowe Syndrome. (PMID 20301653)