ERBIN p.Ala1041=
c.3123A>G · rs200046111 · VCV3016083
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0446%, eas)
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 1.1 | GERP -1.9, phastCons 0.99 |
| Overall | ||
| CADD | 5.858 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0446%
East Asian · 20/44,882 alleles
Filtering AF
0.0295%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0246%
Overall
0.00149%
24/1,614,182 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0446% | 2,244 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,256 |
| European (non-Finnish) | 0.000169% | 590,012 |
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
- ERBIN
- Protein
- p.Ala1041=
- Coding
- c.3123A>G
- MANE Select
- NM_001253697
- dbSNP
- rs200046111
- Type
- single nucleotide variant
- Location
- chr5:66054441 (GRCh38)
- Gene constraint
- LOEUF 0.526 · pLI 0.72 (gnomAD)
- Structure
- AlphaFold pLDDT 56.01 · 11 PDB
Similar variants
- ERBIN p.Ala1041Val Uncertain significance ★ ⚠ same residue
- ERBIN p.Ala942Val Uncertain significance ★★ ⚠ same type
- ERBIN p.Arg1096Gln Uncertain significance ★★ ⚠ same type
- ERBIN p.Arg1166Gln Uncertain significance ★★ ⚠ same type
- ERBIN p.Asn1035Ser Uncertain significance ★★ ⚠ same type
- ERBIN p.Asn650Ser Uncertain significance ★★ ⚠ same type
- ERBIN p.Asp530Tyr Uncertain significance ★★ ⚠ same type
- ERBIN p.Cys658Ser 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/erbin-p-ala1041 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown