CREM p.Arg244=
c.732A>G · rs114020170 · VCV776508
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.77%, 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 1.3 | GERP -0.62, phastCons 1 |
| Overall | ||
| CADD | 7.832 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.77%
African / African-American · 2,080/75,000 alleles
Filtering AF
2.67%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.63%
Overall
0.152%
2,450/1,613,756 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.77% | 36 |
| Admixed American | 0.257% | 389 |
| Remaining individualsnot grpmax-eligible | 0.221% | 453 |
| Middle Eastern | 0.132% | 755 |
| South Asian | 0.011% | 9,107 |
| European (non-Finnish) | 0.00509% | 19,664 |
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
- CREM
- Protein
- p.Arg244=
- Coding
- c.732A>G
- MANE Select
- NM_183011
- dbSNP
- rs114020170
- Type
- single nucleotide variant
- Location
- chr10:35207028 (GRCh38)
- Gene constraint
- LOEUF 0.533 · pLI 0.95 (gnomAD)
- Structure
- AlphaFold pLDDT 61.54
Similar variants
- CREM p.Lys104= Benign ★★ same type
- CREM p.Ser226Leu Likely benign ★★ ⚠ same type
- CREM c.*344A>G Uncertain significance ★ ⚠ same type
- CREM c.*354A>G Uncertain significance ★ ⚠ same type
- CREM c.*368C>A Uncertain significance ★ same type
- CREM p.Ala168Val Uncertain significance ★ ⚠ same type
- CREM p.Ala58Ser Uncertain significance ★ ⚠ same type
- CREM p.Arg211Gln 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/crem-p-arg244 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown