ACTG2 p.Pro323=
c.969C>T · rs151132409 · VCV712048
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.251%, nfe)
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 1.4 | GERP 1.3, phastCons 1 |
| Overall | ||
| CADD | 10.17 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.251%
European (non-Finnish) · 2,957/1,179,926 alleles
Filtering AF
0.243%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.24%
Overall
0.198%
3,201/1,613,938 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.251% | 399 |
| Remaining individualsnot grpmax-eligible | 0.178% | 563 |
| Admixed American | 0.133% | 750 |
| African / African-American | 0.0453% | 2,207 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0169% | 5,917 |
| Middle Eastern | 0.0166% | 6,010 |
| Finnishnot grpmax-eligible | 0.0109% | 9,145 |
| South Asian | 0.00659% | 15,175 |
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
- ACTG2
- Protein
- p.Pro323=
- Coding
- c.969C>T
- MANE Select
- NM_001615
- dbSNP
- rs151132409
- Type
- single nucleotide variant
- Location
- chr2:73916747 (GRCh38)
- Gene constraint
- LOEUF 0.626 · pLI 0.28 (gnomAD)
- Structure
- AlphaFold pLDDT 95.46 · 4 PDB
Similar variants
- ACTG2 p.Pro323Leu Likely pathogenic ★ same residue
- ACTG2 p.Ala205Thr Pathogenic ★★ same type
- ACTG2 p.Arg148Cys Likely pathogenic ★★ same type
- ACTG2 p.Arg178Cys Pathogenic ★★ same type
- ACTG2 p.Arg178His Pathogenic ★★ same type
- ACTG2 p.Arg178Leu Pathogenic ★★ same type
- ACTG2 p.Arg211Gln Pathogenic/Likely pathogenic ★★ same type
- ACTG2 p.Arg257Cys Pathogenic ★★ same type
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/actg2-p-pro323 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown