GFER p.Arg37=
c.111G>C · VCV3653414
Likely benign
Single submitter
Classification
Likely benign
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 |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.18 | GERP -2.4, phastCons 0.17 |
| Overall | ||
| CADD | 11.46 | 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
- GFER
- Protein
- p.Arg37=
- Coding
- c.111G>C
- MANE Select
- NM_005262
- Type
- single nucleotide variant
- Location
- chr16:1984329 (GRCh38)
- Gene constraint
- LOEUF 1.87 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 78.50 · 7 PDB
- Residue 37
- the 'disordered' region
Similar variants
- GFER p.Arg194His Pathogenic ★★ same type
- GFER p.Ser189Ter Pathogenic ★★ same type
- GFER c.258+1G>A Uncertain significance ★★ same type
- GFER p.Ala45Thr Uncertain significance ★★ ⚠ same type
- GFER p.Ala46Val Uncertain significance ★★ ⚠ same type
- GFER p.Ala73Ser Uncertain significance ★★ ⚠ same type
- GFER p.Arg196Cys Uncertain significance ★★ ⚠ same type
- GFER p.Arg82Gln 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/gfer-p-arg37 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown