EPB41 p.Asp142=
c.426C>T · rs2149522654 · VCV1330438
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
elliptocytosis 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 |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.1 | GERP 0.11, phastCons 1 |
| Overall | ||
| CADD | 8.202 | 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.Asp142=
- Coding
- c.426C>T
- MANE Select
- NM_001376013
- dbSNP
- rs2149522654
- Type
- single nucleotide variant
- Location
- chr1:28987863 (GRCh38)
- Gene constraint
- LOEUF 0.738 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 63.72 · 3 PDB
- Residue 142
- the 'disordered' region
Disease context
elliptocytosis 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Hereditary elliptocytosis (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive
- Onset
- All ages
- Prevalence
- 1-5 / 10 000 (Worldwide)
Similar variants
- EPB41 p.Arg471Ter Pathogenic/Likely pathogenic ★★ same condition
- EPB41 p.Arg554Ter Pathogenic/Likely pathogenic ★★ same condition
- EPB41 p.Arg715Ter Pathogenic ★★ same condition
- EPB41 p.Gln274Ter Pathogenic ★★ same condition
- EPB41 p.Tyr331Ter Pathogenic/Likely pathogenic ★★ same condition
- EPB41 p.Ala259Val Uncertain significance ★★ ⚠ same condition
- EPB41 p.Ala502Val Uncertain significance ★★ ⚠ same condition
- EPB41 p.Ala535Val Uncertain significance ★★ ⚠ 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/epb41-p-asp142 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown