CREBRF p.Pro157=
c.471C>T · rs35768619 · VCV776103
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 3.51%, 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 -5.3 | GERP -3.5 |
| Overall | ||
| CADD | 0.446 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.51%
African / African-American · 2,633/75,016 alleles
Filtering AF
3.4%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.35%
Overall
0.19%
3,063/1,614,084 alleles · low-frequency
exomes 1,569/1,461,858 · genomes 1,494/152,226 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.51% | 28 |
| Remaining individualsnot grpmax-eligible | 0.285% | 351 |
| Admixed American | 0.238% | 420 |
| Middle Eastern | 0.181% | 551 |
| South Asian | 0.011% | 9,107 |
| European (non-Finnish) | 0.00746% | 13,409 |
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
- CREBRF
- Protein
- p.Pro157=
- Coding
- c.471C>T
- MANE Select
- NM_153607
- dbSNP
- rs35768619
- Type
- single nucleotide variant
- Location
- chr5:173090650 (GRCh38)
- Gene constraint
- LOEUF 0.173 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 57.02
Similar variants
- CREBRF p.Ala260Val Uncertain significance ★ ⚠ same type
- CREBRF p.Ala269Glu Uncertain significance ★ ⚠ same type
- CREBRF p.Arg18Ter Uncertain significance ★ same type
- CREBRF p.Arg249Trp Uncertain significance ★ ⚠ same type
- CREBRF p.Arg426Trp Uncertain significance ★ ⚠ same type
- CREBRF p.Arg481Trp Uncertain significance ★ ⚠ same type
- CREBRF p.Arg577Gln Uncertain significance ★ ⚠ same type
- CREBRF p.Arg582Lys 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/crebrf-p-pro157 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown