GORAB p.Gln71fs
c.206dup · rs1649258525 · VCV2791339
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 5 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.13 | GERP -3.1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- GORAB
- Protein
- p.Gln71fs
- Coding
- c.206dup
- MANE Select
- NM_152281
- dbSNP
- rs1649258525
- Type
- Duplication
- Location
- chr1:170539352 (GRCh38)
- Gene constraint
- LOEUF 0.802 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 71.86
- Residue 71
- the 'disordered' region
Similar variants
- GORAB c.-19dup Pathogenic ★ same type
- GORAB p.Ala165fs Pathogenic ★ same type
- GORAB p.Pro78fs Pathogenic ★ same type
- GORAB c.-48dup Conflicting classifications of pathogenicity ★ same type
- GORAB c.419+53dup Benign ★ same type
- GORAB c.420-10dup Benign ★ same type
- GORAB c.522-5dup Benign ★ 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/gorab-p-gln71fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown