ANXA11 p.Pro121=
c.363G>A · rs763635303 · VCV2055433
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0112%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.014 | strongly benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -15 | GERP -3.5 |
| Overall | ||
| CADD | 0.466 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0112%
Admixed American · 6/53,444 alleles
Filtering AF
0.00482%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00334%
Overall
0.000568%
9/1,583,930 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0112% | 8,907 |
| European (non-Finnish) | 0.000257% | 389,237 |
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.Pro121=
- Coding
- c.363G>A
- MANE Select
- NM_145868
- dbSNP
- rs763635303
- Type
- single nucleotide variant
- Location
- chr10:80169167 (GRCh38)
- Gene constraint
- LOEUF 1.086 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.32 · 2 PDB
- Residue 121
- the 'disordered' region
Similar variants
- ANXA11 p.Pro121Leu Uncertain significance ★ ⚠ same residue
- 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
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-pro121 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown