ANAPC11 p.Pro45=
c.135G>A · VCV3862368
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00534%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.117 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -9.5 | GERP -2.9 |
| Overall | ||
| CADD | 3.871 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00534%
African / African-American · 4/74,864 alleles
Filtering AF
0.00175%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00142%
Overall
0.0023%
37/1,610,310 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00534% | 18,716 |
| South Asian | 0.00329% | 30,353 |
| European (non-Finnish) | 0.00238% | 42,064 |
| Admixed American | 0.00167% | 59,940 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,326 |
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
- ANAPC11
- Protein
- p.Pro45=
- Coding
- c.135G>A
- MANE Select
- NM_001002248
- Type
- single nucleotide variant
- Location
- chr17:81899945 (GRCh38)
- Gene constraint
- LOEUF 0.785 · pLI 0.55 (gnomAD)
- Structure
- AlphaFold pLDDT 92.56 · 23 PDB
Similar variants
- ANAPC11 c.110-409C>A Uncertain significance ★ same type
- ANAPC11 c.110-414C>T Uncertain significance ★ same type
- ANAPC11 c.110-423T>C Uncertain significance ★ same type
- ANAPC11 c.110-430G>A Uncertain significance ★ same type
- ANAPC11 c.110-453C>T Uncertain significance ★ same type
- ANAPC11 c.110-490G>A Uncertain significance ★ same type
- ANAPC11 c.110-499C>T Uncertain significance ★ same type
- ANAPC11 c.110-595C>A 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/anapc11-p-pro45 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown