CREBBP p.Pro773=
c.2319G>A · rs560358764 · VCV589040
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00167%, amr)
Conditions
1
Inborn genetic diseases
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 -13 | GERP -3.3 |
| Overall | ||
| CADD | 0.666 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00167%
Admixed American · 1/60,000 alleles
Filtering AF
6.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.9e-05%
Overall
0.00031%
5/1,612,182 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00167% | 60,000 |
| African / African-American | 0.00133% | 74,938 |
| European (non-Finnish) | 0.000254% | 393,340 |
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
- CREBBP
- Protein
- p.Pro773=
- Coding
- c.2319G>A
- MANE Select
- NM_004380
- dbSNP
- rs560358764
- Type
- single nucleotide variant
- Location
- chr16:3773895 (GRCh38)
- Gene constraint
- LOEUF 0.101 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 54.31 · 144 PDB
Similar variants
- CREBBP p.Pro773Leu Uncertain significance ★ ⚠ same residue
- CREBBP p.Arg1786Cys Pathogenic/Likely pathogenic ★★ same condition
- CREBBP p.Ala1510Val Uncertain significance ★★ ⚠ same condition
- CREBBP p.Ala15Gly Uncertain significance ★★ ⚠ same condition
- CREBBP p.Ala1830Thr Uncertain significance ★★ ⚠ same condition
- CREBBP p.Ala2049Pro Uncertain significance ★★ ⚠ same condition
- CREBBP p.Ala828Val Uncertain significance ★★ ⚠ same condition
- CREBBP p.Arg1960Pro Uncertain significance ★★ same condition
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/crebbp-p-pro773 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown