ANLN p.Pro645=
c.1935A>G · rs1787817661 · VCV1947669
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00223%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.107 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.68 | GERP -0.43 |
| Overall | ||
| CADD | 7.871 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00223%
East Asian · 1/44,878 alleles
Overall
0.000186%
3/1,614,004 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00223% | 44,878 |
| African / African-American | 0.00133% | 74,940 |
| South Asian | 0.0011% | 91,084 |
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.Pro645=
- Coding
- c.1935A>G
- MANE Select
- NM_018685
- dbSNP
- rs1787817661
- Type
- single nucleotide variant
- Location
- chr7:36420234 (GRCh38)
- Gene constraint
- LOEUF 0.537 · pLI 0.08 (gnomAD)
- Structure
- AlphaFold pLDDT 60.09 · 3 PDB
- Residue 645
- the 'disordered' region; 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-pro645 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown