CBS p.Gln517fs
c.1549del · rs2517382043 · VCV2126257
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon within the last 50 nt of the penultimate exon (16 of 17, 3 nt from its 3' end) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.8 | GERP 1.1, phastCons 1 |
| Region caveats | ||
| Repeat context | seg dup | · reads may not map uniquely · confidence, not pathogenicity |
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
- CBS
- Protein
- p.Gln517fs
- Coding
- c.1549del
- MANE Select
- NM_000071
- dbSNP
- rs2517382043
- Type
- Deletion
- Location
- chr21:43056806 (GRCh38)
- Structure
- AlphaFold pLDDT 90.15 · 28 PDB
Similar variants
- CBS p.Gln517= Likely benign ★★ same residue
- CBS c.209+1del Pathogenic ★★ same condition
- CBS p.Arg161fs Pathogenic/Likely pathogenic ★★ same condition
- CBS p.Arg51fs Pathogenic/Likely pathogenic ★★ same condition
- CBS p.Glu363fs Pathogenic/Likely pathogenic ★★ same condition
- CBS p.Lys247_Gly256del Pathogenic/Likely pathogenic ★★ same condition
- CBS p.Lys406fs Pathogenic/Likely pathogenic ★★ same condition
- CBS p.Pro33fs 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/cbs-p-gln517fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown