ANLN p.Ser330=
c.990G>A · rs148370852 · VCV1165114
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.327%, afr)
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 -2.6 | GERP -4.5 |
| Overall | ||
| CADD | 1.005 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.327%
African / African-American · 245/75,006 alleles
Filtering AF
0.293%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.28%
Overall
0.0173%
280/1,613,866 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.327% | 306 |
| Admixed American | 0.0317% | 3,158 |
| Remaining individualsnot grpmax-eligible | 0.0128% | 7,812 |
| South Asian | 0.0011% | 91,074 |
| European (non-Finnish) | 0.000593% | 168,550 |
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
- ANLN
- Protein
- p.Ser330=
- Coding
- c.990G>A
- MANE Select
- NM_018685
- dbSNP
- rs148370852
- Type
- single nucleotide variant
- Location
- chr7:36407850 (GRCh38)
- Gene constraint
- LOEUF 0.537 · pLI 0.08 (gnomAD)
- Structure
- AlphaFold pLDDT 60.09 · 3 PDB
- Residue 330
- the 'interaction with f-actin' region
Similar variants
- ANLN p.Arg431Cys Pathogenic/Likely pathogenic ★★ same type
- ANLN c.2653-13G>A Uncertain significance ★★ same type
- ANLN p.Ala47Gly Uncertain significance ★★ ⚠ same type
- ANLN p.Ala828Thr Uncertain significance ★★ ⚠ same type
- ANLN p.Ala940Thr Uncertain significance ★★ ⚠ same type
- ANLN p.Arg1040His Uncertain significance ★★ ⚠ same type
- ANLN p.Arg154Cys Uncertain significance ★★ ⚠ same type
- ANLN p.Arg376Cys Uncertain significance ★★ ⚠ 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/anln-p-ser330 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown