AQP1 p.Pro38=
c.114G>A · rs565738930 · VCV2704278
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.762%, sas)
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 -5.5 | GERP -3.7 |
| Overall | ||
| CADD | 5.266 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.762%
South Asian · 694/91,090 alleles
Filtering AF
0.715%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.696%
Overall
0.0497%
802/1,613,554 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.762% | 131 |
| Remaining individualsnot grpmax-eligible | 0.0544% | 1,838 |
| Middle Eastern | 0.033% | 3,031 |
| European (non-Finnish) | 0.00593% | 16,858 |
| East Asian | 0.00223% | 44,876 |
| African / African-American | 0.00133% | 75,064 |
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
- AQP1
- Protein
- p.Pro38=
- Coding
- c.114G>A
- MANE Select
- NM_198098
- dbSNP
- rs565738930
- Type
- single nucleotide variant
- Location
- chr7:30912023 (GRCh38)
- Gene constraint
- LOEUF 0.915 · pLI 0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.25 · 10 PDB
- Residue 38
- a UniProt-annotated variant site (in co(a-b-) antigen; non functional aqp1; red cells show low osmotic water permeability); a β-strand
Similar variants
- AQP1 p.Pro38Leu Pathogenic ⚠ same residue
- AQP1 p.Ala168Val Uncertain significance ★★ ⚠ same type
- AQP1 p.Asp259Asn Uncertain significance ★★ ⚠ same type
- AQP1 p.Ala45Val Benign ★★ same type
- AQP1 p.Ile60= Benign/Likely benign ★★ same type
- AQP1 p.Val107Gly Benign/Likely benign ★★ ⚠ same type
- AQP1 p.Arg195Trp Pathogenic ★ same type
- AQP1 p.Ser196Cys Pathogenic ★ 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/aqp1-p-pro38 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown