HFE p.Asp41=
c.123C>T · rs1762647992 · VCV2822995
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
hereditary hemochromatosis
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 -0.12 | phastCons 0.098 |
| Overall | ||
| CADD | 6.696 | 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
- HFE
- Protein
- p.Asp41=
- Coding
- c.123C>T
- MANE Select
- NM_000410
- dbSNP
- rs1762647992
- Type
- single nucleotide variant
- Location
- chr6:26090887 (GRCh38)
- Gene constraint
- LOEUF 1.037 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 88.62 · 2 PDB
- Residue 41
- the 'alpha-1' region
Similar variants
- HFE c.1006+1G>A Pathogenic/Likely pathogenic ★★ same condition
- HFE c.616+1G>A Pathogenic/Likely pathogenic ★★ same condition
- HFE c.616+1G>T Pathogenic ★★ same condition
- HFE c.76+2T>C Likely pathogenic ★★ same condition
- HFE p.Gln283Pro Pathogenic/Likely pathogenic ★★ ⚠ same condition
- HFE p.Glu298Ter Pathogenic/Likely pathogenic ★★ same condition
- HFE p.Leu183Pro Pathogenic/Likely pathogenic ★★ same condition
- HFE p.Lys254Ter 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/hfe-p-asp41 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown