CYP11B1 p.Pro94=
c.282G>A · rs750620653 · VCV1109816
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0401%, eas)
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 -6.6 | GERP -2.7 |
| Overall | ||
| CADD | 3.471 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0401%
East Asian · 18/44,858 alleles
Filtering AF
0.0259%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0214%
Overall
0.00291%
47/1,613,810 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0401% | 2,492 |
| Admixed American | 0.015% | 6,665 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,826 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,600 |
| South Asian | 0.00329% | 30,358 |
| African / African-American | 0.00133% | 74,920 |
| European (non-Finnish) | 0.00102% | 98,324 |
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
- CYP11B1
- Protein
- p.Pro94=
- Coding
- c.282G>A
- MANE Select
- NM_000497
- dbSNP
- rs750620653
- Type
- single nucleotide variant
- Location
- chr8:142879145 (GRCh38)
- Gene constraint
- LOEUF 0.923 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.10 · 2 PDB
- Residue 94
- a UniProt-annotated variant site (in ah4; almost abolishes steroid 11-beta-hydroxylase activity); an α-helix
Similar variants
- CYP11B1 p.Pro94Leu Pathogenic ★★ ⚠ same residue
- CYP11B1 p.Pro94Gln Likely pathogenic ★ ⚠ same residue
- CYP11B1 c.396-2A>G Likely pathogenic ★★ same type
- CYP11B1 c.596-2A>T Pathogenic/Likely pathogenic ★★ same type
- CYP11B1 p.Ala306Val Pathogenic/Likely pathogenic ★★ same type
- CYP11B1 p.Arg138Cys Pathogenic/Likely pathogenic ★★ ⚠ same type
- CYP11B1 p.Arg141Gln Pathogenic/Likely pathogenic ★★ ⚠ same type
- CYP11B1 p.Arg141Ter Pathogenic ★★ 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/cyp11b1-p-pro94 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown