CYP11B1 p.Pro37=
c.111C>T · rs397831740 · VCV2200696
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0011%, sas)
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 4 | GERP 1.4, phastCons 1 |
| Overall | ||
| CADD | 11.73 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0011%
South Asian · 1/91,090 alleles
Overall
6.84e-05%
1/1,461,880 alleles · very 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
- CYP11B1
- Protein
- p.Pro37=
- Coding
- c.111C>T
- MANE Select
- NM_000497
- dbSNP
- rs397831740
- Type
- single nucleotide variant
- Location
- chr8:142879703 (GRCh38)
- Gene constraint
- LOEUF 0.923 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.10 · 2 PDB
Similar variants
- CYP11B1 p.Pro37Ser Uncertain significance ★ ⚠ 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
- CYP11B1 p.Arg143Trp Pathogenic/Likely 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-pro37 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown