CEP170B p.Ala127=
c.381G>A · rs185370385 · VCV3058725
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.132%, mid)
Conditions
1
CEP170B-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -12 | GERP -3.9 |
| Overall | ||
| CADD | 0.049 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.132%
Middle Eastern · 8/6,052 alleles
Filtering AF
0.0915%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0844%
Overall
0.0235%
379/1,610,904 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.132% | 756 |
| African / African-American | 0.111% | 903 |
| Admixed American | 0.0436% | 2,296 |
| Remaining individualsnot grpmax-eligible | 0.0433% | 2,311 |
| South Asian | 0.0298% | 3,355 |
| European (non-Finnish) | 0.0175% | 5,723 |
| East Asian | 0.00223% | 44,780 |
| Finnishnot grpmax-eligible | 0.00159% | 63,064 |
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.Ala127=
- Coding
- c.381G>A
- MANE Select
- NM_001112726
- dbSNP
- rs185370385
- Type
- single nucleotide variant
- Location
- chr14:104880334 (GRCh38)
- Gene constraint
- LOEUF 0.682 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 47.31
Disease context
CEP170B-related disorder
Similar variants
- CEP170B c.3879-7G>C Benign same condition
- CEP170B c.3879-8G>A Benign same condition
- CEP170B c.4271+8G>A Likely benign same condition
- CEP170B c.4365+7G>A Likely benign same condition
- CEP170B p.Ala1177= Likely benign same condition
- CEP170B p.Ala302Val Likely benign same condition
- CEP170B p.Ala369Val Likely benign same condition
- CEP170B p.Ala373= Benign 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/cep170b-p-ala127 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown