PSAP p.Pro160fs
c.479del · VCV3336936
Pathogenic
Single submitter
Classification
Pathogenic
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 5 of 14 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -11 | GERP -3.4 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PSAP
- Protein
- p.Pro160fs
- Coding
- c.479del
- MANE Select
- NM_002778
- Type
- Deletion
- Location
- chr10:71828974 (GRCh38)
- Gene constraint
- LOEUF 0.507 · pLI 0.95 (gnomAD)
- Structure
- AlphaFold pLDDT 73.90 · 21 PDB
Similar variants
- PSAP p.Pro160Ser Uncertain significance ⚠ same residue
- PSAP c.720+2_720+5del Likely pathogenic ★★ same type
- PSAP p.Lys227del Pathogenic/Likely pathogenic ★★ same type
- PSAP c.41-17_42del Likely pathogenic ★ same type
- PSAP p.Ala39fs Likely pathogenic ★ same type
- PSAP p.Arg127fs Likely pathogenic ★ same type
- PSAP p.Asp272fs Pathogenic ★ same type
- PSAP p.Asp68fs 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/psap-p-pro160fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown