CEP250 p.Arg1791fs
c.5370del · rs2516260557 · VCV2073561
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 30 of 35 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.8 | GERP -0.26, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- CEP250
- Protein
- p.Arg1791fs
- Coding
- c.5370del
- MANE Select
- NM_007186
- dbSNP
- rs2516260557
- Type
- Deletion
- Location
- chr20:35503738 (GRCh38)
- Gene constraint
- LOEUF 0.86 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 64.68 · 1 PDB
- Residue 1791
- a UniProt-annotated variant site (in crdhl2); a UniProt-annotated variant site (in crdhl2; also found in a family with non-syndromic retinitis pigmentosa); a UniProt-annotated variant site (in crdhl2; the retinal involvement is more severe in double homozygotes also carrying a pcare truncating variant)
Similar variants
- CEP250 p.Arg1791= Likely benign ★ same residue
- CEP250 p.Asp1684fs Pathogenic ★★ same type
- CEP250 p.Glu883fs Pathogenic/Likely pathogenic ★★ same type
- CEP250 p.Met885fs Pathogenic/Likely pathogenic ★★ same type
- CEP250 p.Glu1735del Uncertain significance ★★ same type
- CEP250 p.Glu2151_Arg2154del Uncertain significance ★★ same type
- CEP250 p.Lys1664del Uncertain significance ★★ same type
- CEP250 c.2289-15del Likely benign ★★ 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/cep250-p-arg1791fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown