CIRBP p.Ser213=
c.639C>G · rs550382253 · VCV727266
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.197%, 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 0.25 | GERP -0.34 |
| Overall | ||
| CADD | 9.986 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.197%
African / African-American · 147/74,808 alleles
Filtering AF
0.171%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.161%
Overall
0.0111%
178/1,597,618 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.197% | 509 |
| Finnishnot grpmax-eligible | 0.0116% | 8,602 |
| Remaining individualsnot grpmax-eligible | 0.0113% | 8,872 |
| Admixed American | 0.0106% | 9,458 |
| European (non-Finnish) | 0.000938% | 106,623 |
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
- CIRBP
- Protein
- p.Ser213=
- Coding
- c.639C>G
- MANE Select
- NM_001300829
- dbSNP
- rs550382253
- Type
- single nucleotide variant
- Location
- chr19:1272188 (GRCh38)
- Gene constraint
- LOEUF 0.717 · pLI 0.31 (gnomAD)
- Structure
- AlphaFold pLDDT 61.78 · 3 PDB
Similar variants
- CIRBP p.Arg101Trp Uncertain significance ★ ⚠ same type
- CIRBP p.Arg105Cys Uncertain significance ★ ⚠ same type
- CIRBP p.Arg112Cys Uncertain significance ★ ⚠ same type
- CIRBP p.Arg112Leu Uncertain significance ★ ⚠ same type
- CIRBP p.Arg116Lys Uncertain significance ★ ⚠ same type
- CIRBP p.Arg127Trp Uncertain significance ★ ⚠ same type
- CIRBP p.Arg139Thr Uncertain significance ★ ⚠ same type
- CIRBP p.Arg154Trp 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/cirbp-p-ser213 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown