CTRL p.Val70=
c.210G>T · rs75847401 · VCV709489
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.54%, 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 |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.1 | phastCons 0.001 |
| Overall | ||
| CADD | 6.058 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.54%
African / African-American · 1,909/75,032 alleles
Filtering AF
2.45%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.41%
Overall
0.138%
2,230/1,613,808 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.54% | 39 |
| Remaining individualsnot grpmax-eligible | 0.17% | 590 |
| Admixed American | 0.153% | 652 |
| Middle Eastern | 0.0991% | 1,009 |
| European (non-Finnish) | 0.00983% | 10,173 |
| South Asian | 0.0011% | 91,078 |
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.Val70=
- Coding
- c.210G>T
- MANE Select
- NM_001907
- dbSNP
- rs75847401
- Type
- single nucleotide variant
- Location
- chr16:67930946 (GRCh38)
- Gene constraint
- LOEUF 1.372 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.26
- Residue 70
- the peptidase s1 domain; a disulfide bond
Similar variants
- CTRL p.Gly230Ser Uncertain significance ★★ ⚠ same type
- CTRL p.Glu151Gln 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
- CTRL p.Arg188Trp Uncertain significance ★ ⚠ same type
- CTRL p.Arg242Cys 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-val70 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown