CEP170B p.Ser809Pro
c.2425T>C · rs980204132 · VCV2369764
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0228%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.048 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.73 | GERP -3.2 |
| Regional constraint | o/e 1.00 | unconstrained · MANE · 19 kb · p 0.99 · regional, not allelic |
| Overall | ||
| CADD | 0.262 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0228%
Admixed American · 11/48,186 alleles
Filtering AF
0.0128%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0099%
Overall
0.0013%
20/1,538,176 alleles · ultra-rare
exomes 12/1,386,080 · genomes 8/152,096 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0228% | 4,381 |
| Remaining individualsnot grpmax-eligible | 0.00676% | 14,784 |
| South Asian | 0.00128% | 78,170 |
| European (non-Finnish) | 0.000349% | 286,369 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CEP170B
- Protein
- p.Ser809Pro
- Coding
- c.2425T>C
- MANE Select
- NM_001112726
- dbSNP
- rs980204132
- Type
- single nucleotide variant
- Location
- chr14:104886664 (GRCh38)
- Gene constraint
- LOEUF 0.682 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 47.31
- Residue 809
- the 'disordered' region
Similar variants
- CEP170B p.Lys368Glu Uncertain significance ★★ same type
- CEP170B p.Pro148Leu Uncertain significance ★★ same type
- CEP170B p.Ala259Val Benign ★★ same type
- CEP170B p.Arg147= Benign ★★ same type
- CEP170B p.Ala1053Val Uncertain significance ★ same type
- CEP170B p.Ala1062Val Uncertain significance ★ same type
- CEP170B p.Ala1083Val Uncertain significance ★ same type
- CEP170B p.Ala1091Thr Uncertain significance ★ 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/cep170b-p-ser809pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown