PDE5A p.Glu808=
c.2424G>A · rs115920291 · VCV786047
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.26%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.102 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · C>A here scores Δ0.21 · evaluated, not missing |
| Pangolin | Δ0.29 | loss · gain 0.00 · SpliceAI below 0.2 · independent |
| Constraint at this position | ||
| Conservation | phyloP 2 | GERP 1.1, phastCons 1 |
| Overall | ||
| CADD | 8.438 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.26%
African / African-American · 2,437/74,842 alleles
Filtering AF
3.15%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.1%
Overall
0.169%
2,723/1,607,706 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.26% | 31 |
| Admixed American | 0.223% | 448 |
| Remaining individualsnot grpmax-eligible | 0.185% | 541 |
| Middle Eastern | 0.0662% | 1,512 |
| South Asian | 0.00769% | 12,996 |
| European (non-Finnish) | 0.00221% | 45,170 |
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
- PDE5A
- Protein
- p.Glu808=
- Coding
- c.2424G>A
- MANE Select
- NM_001083
- dbSNP
- rs115920291
- Type
- single nucleotide variant
- Location
- chr4:119501236 (GRCh38)
- Gene constraint
- LOEUF 0.704 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.32 · 50 PDB
- Residue 808
- the pdease domain; an α-helix
Similar variants
- PDE5A p.Glu808Lys Uncertain significance ★ ⚠ same residue
- PDE5A c.2190-4G>A Benign/Likely benign ★★ same type
- PDE5A p.Arg740Lys Likely benign ★★ same type
- PDE5A p.Glu119Val Benign/Likely benign ★★ same type
- PDE5A p.Glu475= Benign/Likely benign ★★ same type
- PDE5A p.Lys480Gln Benign ★★ same type
- PDE5A p.Pro671= Benign ★★ same type
- PDE5A p.Ala235Val 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/pde5a-p-glu808 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown