AQP5 p.Pro201=
c.603C>T · rs145485849 · VCV2761217
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.155%, amr)
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 -2.6 | GERP -3.9 |
| Overall | ||
| CADD | 3.674 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.155%
Admixed American · 93/60,020 alleles
Filtering AF
0.129%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.12%
Overall
0.0133%
215/1,614,090 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.155% | 645 |
| African / African-American | 0.04% | 2,502 |
| East Asian | 0.0201% | 4,987 |
| South Asian | 0.0176% | 5,692 |
| Remaining individualsnot grpmax-eligible | 0.0096% | 10,418 |
| European (non-Finnish) | 0.00517% | 19,344 |
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
- AQP5
- Protein
- p.Pro201=
- Coding
- c.603C>T
- MANE Select
- NM_001651
- dbSNP
- rs145485849
- Type
- single nucleotide variant
- Location
- chr12:49964166 (GRCh38)
- Gene constraint
- LOEUF 1.316 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.58 · 4 PDB
Similar variants
- AQP5 p.Ala38Glu Pathogenic ★★ ⚠ same type
- AQP5 p.Ala121Val Uncertain significance ★★ ⚠ same type
- AQP5 p.Arg198Trp Uncertain significance ★★ ⚠ same type
- AQP5 p.Arg235His Uncertain significance ★★ same type
- AQP5 p.Asn112Ser Uncertain significance ★★ ⚠ same type
- AQP5 p.Thr127Met Uncertain significance ★★ ⚠ same type
- AQP5 c.363+14G>A Benign ★★ same type
- AQP5 c.528+12C>T Likely benign ★★ 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/aqp5-p-pro201 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown