ACTB p.Asn111Ser
c.332A>G · VCV3356875
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
AlphaMissense
likely pathogenic
0.9417 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
3/3 damaging
AlphaMissense, REVEL, SaProt
Conditions
1
ACTB-related disorder
Computational evidence
| Protein change | ||
| AlphaMissense | 0.9417 | likely pathogenic ✓ concordant with ClinVar |
|---|---|---|
| REVEL | 0.821 | moderately pathogenic-leaning |
| SaProt | LLR -11.23 | damaging |
| ⇒ AlphaMissense, REVEL and SaProt all call this damaging. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 1.2, phastCons 1 |
| Regional constraint | o/e 0.00 | constrained · MANE · 180 bp · p 1.4e-19 · regional, not allelic |
| Overall | ||
| CADD | 29.9 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
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
- ACTB
- Protein
- p.Asn111Ser
- Coding
- c.332A>G
- MANE Select
- NM_001101
- Type
- single nucleotide variant
- Location
- chr7:5529192 (GRCh38)
- Gene constraint
- LOEUF 0.193 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 95.31 · 93 PDB
- Residue 111
- a UniProt-annotated variant site (in csmh; uncertain significance; somatic variant)
Disease context
ACTB-related disorder
Similar variants
- ACTB p.Asn111Asp Likely pathogenic same residue
- ACTB p.Arg183Trp Pathogenic ★★ same condition
- ACTB p.Arg206Gly Likely pathogenic ★★ same condition
- ACTB p.His40Tyr Pathogenic/Likely pathogenic ★★ same condition
- ACTB p.Val159Ala Likely pathogenic ★★ same condition
- ACTB p.Val209Leu Likely pathogenic ★★ same condition
- ACTB p.Val209Met Pathogenic/Likely pathogenic ★★ same condition
- ACTB p.His101Tyr Uncertain significance ★★ ⚠ 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-asn111ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown