CEP128 p.Ser1071=
c.3213A>C · rs148747041 · VCV724772
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.405%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.013 | strongly benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.34 | GERP -1.4, phastCons 0.082 |
| Overall | ||
| CADD | 6.262 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.405%
African / African-American · 304/75,010 alleles
Filtering AF
0.368%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.353%
Overall
0.0206%
333/1,613,304 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.405% | 247 |
| Remaining individualsnot grpmax-eligible | 0.0224% | 4,462 |
| Admixed American | 0.0217% | 4,615 |
| European (non-Finnish) | 0.00017% | 589,748 |
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
- CEP128
- Protein
- p.Ser1071=
- Coding
- c.3213A>C
- MANE Select
- NM_152446
- dbSNP
- rs148747041
- Type
- single nucleotide variant
- Location
- chr14:80497551 (GRCh38)
- Gene constraint
- LOEUF 0.957 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.92
- Residue 1071
- the 'disordered' region
Similar variants
- TSHR p.Cys29Ter Pathogenic ★★ same type
- TSHR p.Cys29Trp Uncertain significance ★★ ⚠ same type
- TSHR p.Leu57Pro Uncertain significance ★★ ⚠ same type
- CEP128 p.Gln443Arg Likely benign ★★ same type
- CEP128 p.Thr317= Benign ★★ same type
- TSHR c.170+10C>T Likely benign ★★ same type
- TSHR c.170+16A>C Likely benign ★★ same type
- TSHR c.170+63G>C Benign ★★ 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/cep128-p-ser1071 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown