F5 p.Arg1063fs
c.3187dup · rs386834226 · VCV56159
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 13 of 25 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -3.2 | GERP -3.3 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- F5
- Protein
- p.Arg1063fs
- Coding
- c.3187dup
- MANE Select
- NM_000130
- dbSNP
- rs386834226
- Type
- Duplication
- Location
- chr1:169541902 (GRCh38)
- Gene constraint
- LOEUF 0.704 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 62.57 · 23 PDB
- Residue 1063
- the 'b' region
Similar variants
- F5 p.His611fs Pathogenic/Likely pathogenic ★★ same type
- F5 p.Ser1680fs Pathogenic ★★ same type
- F5 p.Ser1802fs Pathogenic/Likely pathogenic ★★ same type
- F5 p.Ile2196fs Likely pathogenic ★ same type
- F5 p.Leu810fs Likely pathogenic ★ same type
- F5 p.Lys327Ter Pathogenic ★ same type
- F5 p.Met138fs Likely pathogenic ★ same type
- F5 p.Pro1404fs 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/f5-p-arg1063fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown