SCAF4 p.Pro372fs
c.1113dup · VCV4852216
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Fliedner-Zweier syndrome
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 10 of 20 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 8.4 | GERP 1.6, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- SCAF4
- Protein
- p.Pro372fs
- Coding
- c.1113dup
- MANE Select
- NM_020706
- Type
- Duplication
- Location
- chr21:31694935 (GRCh38)
- Gene constraint
- LOEUF 0.285 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 54.53 · 1 PDB
- Residue 372
- a UniProt-annotated variant site (in fzs; likely pathogenic)
Similar variants
- SCAF4 p.Glu126fs Pathogenic ★ same condition
- SCAF4 p.Leu201fs Pathogenic ★ same condition
- SCAF4 p.Tyr557fs Pathogenic ★ same condition
- SCAF4 p.Pro372His Uncertain significance ★ ⚠ same residue
- SCAF4 p.Arg447Ter Pathogenic ★★ same condition
- SCAF4 p.Arg475Ter Pathogenic ★★ same condition
- SCAF4 p.Arg477Ter Pathogenic ★★ same condition
- SCAF4 p.Arg491Ter Pathogenic/Likely pathogenic ★★ same condition
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/scaf4-p-pro372fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown