OCRL p.Ser568del
c.1701CAG[1] · VCV4952762
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 2.8, phastCons 1 |
Variant & gene context
- Gene
- OCRL
- Protein
- p.Ser568del
- Coding
- c.1701CAG[1]
- MANE Select
- NM_000276
- Type
- Microsatellite
- Location
- chrX:129575238 (GRCh38)
- Structure
- AlphaFold pLDDT 82.91 · 5 PDB
- Residue 568
- a β-strand; the 'ash' region
Similar variants
- OCRL p.Ser568Arg Uncertain significance ★ ⚠ same residue
- OCRL p.Ser568= Likely benign ★ same residue
- OCRL p.Asp480_Ser481insTer Pathogenic ★★ same type
- OCRL p.Asp770fs Pathogenic ★★ same type
- OCRL p.Ser642fs Pathogenic ★★ same type
- OCRL p.Val787fs Pathogenic ★★ same type
- OCRL p.Leu325del Uncertain significance ★★ same type
- OCRL p.Gly304fs Pathogenic ★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/ocrl-p-ser568del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown