SCARB2 p.Arg27=
c.81G>C · rs1481115543 · VCV1630491
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.49e-05%, nfe)
Conditions
1
progressive myoclonus epilepsy
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 -3.6 | GERP -4.2 |
| Overall | ||
| CADD | 10.03 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.49e-05%
European (non-Finnish) · 1/1,178,498 alleles
Overall
6.86e-05%
1/1,458,312 alleles · very rare
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
- SCARB2
- Protein
- p.Arg27=
- Coding
- c.81G>C
- MANE Select
- NM_005506
- dbSNP
- rs1481115543
- Type
- single nucleotide variant
- Location
- chr4:76213463 (GRCh38)
- Gene constraint
- LOEUF 0.683 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 93.01 · 10 PDB
Similar variants
- SCARB2 p.Arg27Gln Conflicting classifications of pathogenicity ★ ⚠ same residue
- SCARB2 p.Arg27Trp Uncertain significance ★ ⚠ same residue
- SCARB2 p.Arg27Gly Uncertain significance ★ ⚠ same residue
- SCARB2 c.704+1G>A Pathogenic ★★ same condition
- SCARB2 p.Arg121Ter Pathogenic/Likely pathogenic ★★ same condition
- SCARB2 p.Arg424Ter Pathogenic ★★ same condition
- SCARB2 p.Gln288Ter Pathogenic ★★ same condition
- SCARB2 p.Gln30Ter Pathogenic/Likely pathogenic ★★ 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/scarb2-p-arg27 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown