CEP55 p.Ser285Pro
c.853T>C · VCV4613409
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.4473 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
1/2 damaging
REVEL, SaProt · AlphaMissense indeterminate
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| AlphaMissense | 0.4473 | ambiguous |
|---|---|---|
| REVEL | 0.141 | moderately benign-leaning |
| SaProt | LLR -12.11 | damaging |
| ⇒ SaProt calls this damaging; REVEL does not; AlphaMissense is indeterminate. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 2.9 | GERP 0.94, phastCons 0.99 |
| Regional constraint | o/e 0.88 | unconstrained · MANE · 28 kb · p 0.0058 · regional, not allelic |
| Overall | ||
| CADD | 20.2 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CEP55
- Protein
- p.Ser285Pro
- Coding
- c.853T>C
- MANE Select
- NM_018131
- Type
- single nucleotide variant
- Location
- chr10:93517108 (GRCh38)
- Gene constraint
- LOEUF 1.138 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.85 · 4 PDB
- Residue 285
- a UniProt-annotated variant site (in march)
Similar variants
- CEP55 p.Arg86Ter Pathogenic ★★ same condition
- CEP55 p.Arg385Gln Uncertain significance ★★ ⚠ same condition
- CEP55 p.His293Arg Uncertain significance ★★ ⚠ same condition
- CEP55 p.Ser2Phe Uncertain significance ★★ ⚠ same condition
- CEP55 p.Val379Ala Uncertain significance ★★ ⚠ same condition
- CEP55 c.1191+2T>C Pathogenic ★ same condition
- CEP55 p.Ala242Ser Uncertain significance ★ ⚠ same condition
- CEP55 p.Ala358Glu Uncertain significance ★ ⚠ same condition
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/cep55-p-ser285pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown