ACTB p.Tyr337Ter
c.1010dup · rs2533846008 · VCV3028959
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (6 of 6) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.6 | GERP -0.41, 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
- ACTB
- Protein
- p.Tyr337Ter
- Coding
- c.1010dup
- MANE Select
- NM_001101
- dbSNP
- rs2533846008
- Type
- Duplication
- Location
- chr7:5527865 (GRCh38)
- Gene constraint
- LOEUF 0.193 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 95.31 · 93 PDB
- Residue 337
- an α-helix
Disease context
Similar variants
- ACTB p.Tyr337Ser Likely pathogenic ★ same residue
- ACTB p.Tyr337= Likely benign ★★ same residue
- ACTB p.Pro322fs Likely pathogenic ★ same condition
- ACTB p.Arg183Trp Pathogenic ★★ same condition
- ACTB p.Arg206Gly Likely pathogenic ★★ same condition
- ACTB p.His40Tyr Pathogenic/Likely pathogenic ★★ same condition
- ACTB p.Thr297fs Likely pathogenic ★★ same condition
- ACTB p.Val159Ala 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/actb-p-tyr337ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown