CEP170B p.Ala14Pro
c.40G>C · VCV3266100
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0107%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.154 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 5.9 | GERP 0.89, phastCons 1 |
| Regional constraint | o/e 0.53 | unconstrained · MANE · 7,873 bp · p 1.3e-05 · regional, not allelic |
| Overall | ||
| CADD | 22.6 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0107%
South Asian · 9/84,012 alleles
Filtering AF
0.00553%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00414%
Overall
0.000644%
9/1,397,078 alleles · ultra-rare
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.Ala14Pro
- Coding
- c.40G>C
- MANE Select
- NM_001112726
- Type
- single nucleotide variant
- Location
- chr14:104868490 (GRCh38)
- Gene constraint
- LOEUF 0.682 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 47.31
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-ala14pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown