ACTB p.Arg196=
c.588C>T · rs1184848861 · VCV1078555
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.12%, eas)
Conditions
1
Baraitser-Winter syndrome 1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -5.2 | GERP -3.7 |
| Overall | ||
| CADD | 6.544 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.12%
East Asian · 54/44,884 alleles
Filtering AF
0.0946%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0855%
Overall
0.00384%
62/1,614,092 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.12% | 831 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,255 |
| South Asian | 0.0022% | 45,545 |
| African / African-American | 0.00133% | 75,066 |
| European (non-Finnish) | 0.000254% | 393,348 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ACTB
- Protein
- p.Arg196=
- Coding
- c.588C>T
- MANE Select
- NM_001101
- dbSNP
- rs1184848861
- Type
- single nucleotide variant
- Location
- chr7:5528495 (GRCh38)
- Gene constraint
- LOEUF 0.193 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 95.31 · 93 PDB
- Residue 196
- a UniProt-annotated variant site (in brws1); an α-helix
Similar variants
- ACTB p.Arg196Cys Pathogenic ★★ same residue
- ACTB p.Arg196His Pathogenic ★★ same residue
- ACTB p.Arg196Leu Likely pathogenic ★★ same residue
- ACTB p.Arg196Ser Pathogenic same residue
- ACTB p.Arg196Gly Pathogenic ★ same residue
- ACTB p.Ala22Thr Likely pathogenic ★★ same condition
- ACTB p.Ala7Thr Likely pathogenic ★★ same condition
- ACTB p.Arg147Cys 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-arg196 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown