AZGP1 p.Val44=
c.132C>T · rs139821462 · VCV771873
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.612%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.046 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.41 | GERP 0.6, phastCons 0.024 |
| Overall | ||
| CADD | 1.948 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.612%
European (non-Finnish) · 7,227/1,179,998 alleles
Filtering AF
0.601%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.596%
Overall
0.486%
7,842/1,614,126 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.612% | 163 |
| Remaining individualsnot grpmax-eligible | 0.382% | 262 |
| Admixed American | 0.173% | 577 |
| Finnishnot grpmax-eligible | 0.145% | 688 |
| Ashkenazi Jewishnot grpmax-eligible | 0.138% | 722 |
| Middle Eastern | 0.115% | 866 |
| South Asian | 0.079% | 1,265 |
| African / African-American | 0.0786% | 1,272 |
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
- AZGP1
- Protein
- p.Val44=
- Coding
- c.132C>T
- MANE Select
- NM_001185
- dbSNP
- rs139821462
- Type
- single nucleotide variant
- Location
- chr7:99971951 (GRCh38)
- Gene constraint
- LOEUF 1.141 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.26 · 10 PDB
- Residue 44
- a β-strand
Similar variants
- AZGP1 p.Ala133Thr Uncertain significance ★ ⚠ same type
- AZGP1 p.Ala161Asp Uncertain significance ★ ⚠ same type
- AZGP1 p.Ala188Val Uncertain significance ★ ⚠ same type
- AZGP1 p.Ala18Thr Uncertain significance ★ ⚠ same type
- AZGP1 p.Ala276Asp Uncertain significance ★ ⚠ same type
- AZGP1 p.Ala276Ser Uncertain significance ★ ⚠ same type
- AZGP1 p.Ala276Val Uncertain significance ★ ⚠ same type
- AZGP1 p.Arg120Trp 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/azgp1-p-val44 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown