PSAP p.Ser484fs
c.1448_1449dup · VCV4688779
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 13 of 14 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.6 | GERP -3.4 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PSAP
- Protein
- p.Ser484fs
- Coding
- c.1448_1449dup
- MANE Select
- NM_002778
- Type
- Duplication
- Location
- chr10:71818706 (GRCh38)
- Gene constraint
- LOEUF 0.507 · pLI 0.95 (gnomAD)
- Structure
- AlphaFold pLDDT 73.90 · 21 PDB
- Residue 484
- the saposin b-type 4 domain
Similar variants
- PSAP p.Ser484= Benign/Likely benign ★★ same residue
- PSAP p.Arg186fs Pathogenic ★ same type
- PSAP p.Gly406fs Pathogenic ★ same type
- PSAP p.Leu177fs Pathogenic ★ same type
- PSAP p.Lys351fs Pathogenic ★ same type
- PSAP p.Tyr447Ter Pathogenic ★ same type
- PSAP p.Val205dup Uncertain significance ★ same type
- PSAP c.1539+235dup 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/psap-p-ser484fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown