CTRL p.Asn36=
c.108C>T · rs146079104 · VCV721987
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0493%, afr)
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 |
|---|---|---|
| Pangolin | Δ0.20 | loss · gain 0.00 · not in the SpliceAI release · independent |
| Constraint at this position | ||
| Conservation | phyloP -2.4 | |
| Overall | ||
| CADD | 3.519 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0493%
African / African-American · 37/75,044 alleles
Filtering AF
0.0368%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0323%
Overall
0.00372%
60/1,614,098 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0493% | 2,028 |
| Middle Eastern | 0.033% | 3,030 |
| Admixed American | 0.005% | 20,009 |
| European (non-Finnish) | 0.00144% | 69,413 |
| South Asian | 0.0011% | 91,090 |
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
- CTRL
- Protein
- p.Asn36=
- Coding
- c.108C>T
- MANE Select
- NM_001907
- dbSNP
- rs146079104
- Type
- single nucleotide variant
- Location
- chr16:67931146 (GRCh38)
- Gene constraint
- LOEUF 1.372 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.26
- Residue 36
- the peptidase s1 domain; a disulfide bond
Similar variants
- CTRL p.Asn36Lys Uncertain significance ★ ⚠ same residue
- CTRL p.Gly230Ser Uncertain significance ★★ ⚠ same type
- CTRL p.Glu151Gln Benign ★★ same type
- CTRL p.Val70= Benign ★★ same type
- CTRL p.Ala131Thr Uncertain significance ★ ⚠ same type
- CTRL p.Ala27Thr Uncertain significance ★ ⚠ same type
- CTRL p.Arg136His Uncertain significance ★ ⚠ same type
- CTRL p.Arg162His 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/ctrl-p-asn36 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown