CBS p.Asp234fs
c.702del · rs2146381604 · VCV1402639
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 8 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.44 | GERP -2.4 |
| 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.Asp234fs
- Coding
- c.702del
- MANE Select
- NM_000071
- dbSNP
- rs2146381604
- Type
- Deletion
- Location
- chr21:43065237 (GRCh38)
- Structure
- AlphaFold pLDDT 90.15 · 28 PDB
- Residue 234
- an α-helix; a UniProt-annotated variant site (in cbsd; decreased cystathionine beta-synthase activity; changed localization; decreased interaction with pyridoxal 5'-phosphate; no effect on homotetramer formation); a UniProt-annotated variant site (in cbsd; protein expression is comparable to wild-type; significant decrease of enzyme activity)
Similar variants
- CBS p.Asp234Asn Pathogenic/Likely pathogenic ★★ ⚠ same residue
- CBS p.Asp234del Likely pathogenic ★ 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
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-asp234fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown