ANXA11 p.Ile37=
c.111C>T · rs199500343 · VCV2169818
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00474%, eas)
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 -6.1 | GERP -2.9 |
| Overall | ||
| CADD | 0.628 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00474%
East Asian · 2/42,156 alleles
Filtering AF
0.00194%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00169%
Overall
0.0024%
37/1,539,598 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00474% | 21,078 |
| Remaining individualsnot grpmax-eligible | 0.00337% | 29,651 |
| European (non-Finnish) | 0.0027% | 37,012 |
| African / African-American | 0.00139% | 71,790 |
| South Asian | 0.00128% | 78,348 |
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
- ANXA11
- Protein
- p.Ile37=
- Coding
- c.111C>T
- MANE Select
- NM_145868
- dbSNP
- rs199500343
- Type
- single nucleotide variant
- Location
- chr10:80170860 (GRCh38)
- Gene constraint
- LOEUF 1.086 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.32 · 2 PDB
- Residue 37
- the 'disordered' region
Similar variants
- ANXA11 p.Asp40Gly Pathogenic ★★ ⚠ same type
- ANXA11 p.Asp40Tyr Pathogenic/Likely pathogenic ★★ ⚠ same type
- ANXA11 p.Gly38Arg Pathogenic/Likely pathogenic ★★ ⚠ same type
- ANXA11 c.171+1G>A Uncertain significance ★★ same type
- ANXA11 c.744+2C>T Uncertain significance ★★ same type
- ANXA11 c.744+3G>A Uncertain significance ★★ same type
- ANXA11 p.Ala361Thr Uncertain significance ★★ ⚠ same type
- ANXA11 p.Ala443Asp 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/anxa11-p-ile37 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown