PDE4B p.Asp447=
c.1341C>T · rs536802434 · VCV718969
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.3%, 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 -1.2 | GERP -1.5 |
| Overall | ||
| CADD | 10.38 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.3%
South Asian · 272/90,590 alleles
Filtering AF
0.271%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.259%
Overall
0.018%
290/1,609,446 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.3% | 333 |
| Remaining individualsnot grpmax-eligible | 0.0209% | 4,796 |
| African / African-American | 0.00267% | 37,488 |
| European (non-Finnish) | 0.000255% | 392,131 |
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
- PDE4B
- Protein
- p.Asp447=
- Coding
- c.1341C>T
- MANE Select
- NM_002600
- dbSNP
- rs536802434
- Type
- single nucleotide variant
- Location
- chr1:66365723 (GRCh38)
- Gene constraint
- LOEUF 0.374 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 71.22 · 43 PDB
- Residue 447
- the pdease domain; a binding site; a turn
Similar variants
- PDE4B p.Arg596= Benign ★★ same type
- PDE4B p.Leu642= Benign ★★ same type
- PDE4B p.Ser703Cys Benign ★★ same type
- PDE4B p.Ala148Val Uncertain significance ★ ⚠ same type
- PDE4B p.Arg130Cys Uncertain significance ★ ⚠ same type
- PDE4B p.Arg503Cys Uncertain significance ★ ⚠ same type
- PDE4B p.Arg552His Uncertain significance ★ ⚠ same type
- PDE4B p.Arg576Pro 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/pde4b-p-asp447 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown