EPB41 p.Gln832=
c.2496G>A · VCV4822495
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 |
|---|---|---|
| Pangolin | Δ0.84 | loss · gain 0.02 · not in the SpliceAI release · independent |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.7, phastCons 1 |
| Overall | ||
| CADD | 21.6 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- EPB41
- Protein
- p.Gln832=
- Coding
- c.2496G>A
- MANE Select
- NM_001376013
- Type
- single nucleotide variant
- Location
- chr1:29112448 (GRCh38)
- Gene constraint
- LOEUF 0.738 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 63.72 · 3 PDB
- Residue 832
- the 'c-terminal (ctd)' region
Similar variants
- EPB41 p.Arg471Ter Pathogenic/Likely pathogenic ★★ same type
- EPB41 p.Arg508Ter Pathogenic/Likely pathogenic ★★ same type
- EPB41 p.Arg554Ter Pathogenic/Likely pathogenic ★★ same type
- EPB41 p.Arg715Ter Pathogenic ★★ same type
- EPB41 p.Gln274Ter Pathogenic ★★ same type
- EPB41 p.Met210Val Pathogenic/Likely pathogenic ★★ ⚠ same type
- EPB41 p.Tyr331Ter Pathogenic/Likely pathogenic ★★ same type
- EPB41 p.Ala259Val 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/epb41-p-gln832 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown