MEFV p.Glu445=
c.1335G>A · rs1021989893 · VCV2880855
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
familial Mediterranean fever
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 -4 |
| Overall | ||
| CADD | 0.15 | 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
- MEFV
- Protein
- p.Glu445=
- Coding
- c.1335G>A
- MANE Select
- NM_000243
- dbSNP
- rs1021989893
- Type
- single nucleotide variant
- Location
- chr16:3248930 (GRCh38)
- Gene constraint
- LOEUF 1.147 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 73.64 · 11 PDB
- Residue 445
- an α-helix; the 'required for homotrimerization and induction of pyroptosomes' region
Disease context
familial Mediterranean fever — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Familial Mediterranean fever (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive
- Onset
- Adolescent, Adult, Childhood, Infancy
- Prevalence
- >1 / 1000 (Turkey)
Similar variants
- MEFV p.Arg761His Pathogenic/Likely pathogenic ★★ ⚠ same condition
- MEFV p.Ser242Arg Pathogenic/Likely pathogenic ★★ same condition
- MEFV p.Val726Ala Pathogenic/Likely pathogenic ★★ ⚠ same condition
- MEFV c.*845C>T Uncertain significance ★★ same condition
- MEFV p.Ala193Thr Uncertain significance ★★ ⚠ same condition
- MEFV p.Ala2Gly Uncertain significance ★★ ⚠ same condition
- MEFV p.Ala416Thr Uncertain significance ★★ ⚠ same condition
- MEFV p.Ala768Gly 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/mefv-p-glu445 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown