CEP57 p.Arg51Pro
c.152G>C · VCV4226415
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.4586 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
0/2 damaging
REVEL, SaProt · AlphaMissense no call
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| AlphaMissense | 0.4586 | ambiguous |
|---|---|---|
| REVEL | 0.116 | moderately benign-leaning |
| SaProt | LLR -6.31 | tolerated |
| ⇒ REVEL and SaProt both call this tolerated; AlphaMissense makes no call. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 9.7 | GERP 1.6, phastCons 1 |
| Regional constraint | o/e 1.04 | unconstrained · MANE · 41 kb · p 0.29 · regional, not allelic |
| Overall | ||
| CADD | 23.3 | 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
- CEP57
- Protein
- p.Arg51Pro
- Coding
- c.152G>C
- MANE Select
- NM_014679
- Type
- single nucleotide variant
- Location
- chr11:95799338 (GRCh38)
- Gene constraint
- LOEUF 0.74 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.32 · 3 PDB
- Residue 51
- the 'disordered' region
Similar variants
- CEP57 p.Arg51= Likely benign ★★ same residue
- CEP57 p.Arg51Gln Uncertain significance ★★ ⚠ same residue
- CEP57 p.Arg51Leu Uncertain significance ★ ⚠ same residue
- CEP57 p.Ala19Gly Uncertain significance ★★ ⚠ same condition
- CEP57 p.Ala278Thr Uncertain significance ★★ ⚠ same condition
- CEP57 p.Ala412Thr Uncertain significance ★★ same condition
- CEP57 p.Ala4Gly Uncertain significance ★★ ⚠ same condition
- CEP57 p.Ala4Val 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/cep57-p-arg51pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown