CREB1 p.Ala72=
c.216G>A · rs78701038 · VCV719404
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.247%, 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 0.76 | GERP -0.92, phastCons 1 |
| Overall | ||
| CADD | 12.91 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.247%
African / African-American · 185/75,008 alleles
Filtering AF
0.218%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.206%
Overall
0.0139%
225/1,613,858 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.247% | 405 |
| Remaining individualsnot grpmax-eligible | 0.0224% | 4,465 |
| Middle Eastern | 0.0165% | 6,062 |
| Admixed American | 0.0117% | 8,572 |
| South Asian | 0.0033% | 30,347 |
| European (non-Finnish) | 0.00127% | 78,657 |
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
- CREB1
- Protein
- p.Ala72=
- Coding
- c.216G>A
- MANE Select
- NM_004379
- dbSNP
- rs78701038
- Type
- single nucleotide variant
- Location
- chr2:207560327 (GRCh38)
- Gene constraint
- LOEUF 0.189 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 62.38 · 4 PDB
Similar variants
- CREB1 p.Thr194= Benign/Likely benign ★★ same type
- CREB1 p.Ala148Thr Uncertain significance ★ ⚠ same type
- CREB1 p.Ala150Ser Uncertain significance ★ ⚠ same type
- CREB1 p.Ala176Glu Uncertain significance ★ ⚠ same type
- CREB1 p.Ala259Thr Uncertain significance ★ ⚠ same type
- CREB1 p.Ala43Glu Uncertain significance ★ ⚠ same type
- CREB1 p.Ala46Gly Uncertain significance ★ ⚠ same type
- CREB1 p.Ala46Val 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/creb1-p-ala72 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown