F11 p.Ser99fs
c.295del · VCV3380991
Likely pathogenic
Single submitter
Classification
Likely 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 |
|---|---|---|
| NMD | predicted | premature termination codon in exon 4 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.1 | GERP 1.2, phastCons 0.99 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- F11
- Protein
- p.Ser99fs
- Coding
- c.295del
- MANE Select
- NM_000128
- Type
- Deletion
- Location
- chr4:186273146 (GRCh38)
- Gene constraint
- LOEUF 1.145 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.94 · 117 PDB
- Residue 99
- the apple 1 domain
Similar variants
- F11 p.Ser99Tyr Uncertain significance ★ ⚠ same residue
- F11 c.1136-7_1136-4del Pathogenic ★★ same type
- F11 p.Gly303fs Pathogenic ★★ same type
- F11 p.Ile215_Asp216del Pathogenic/Likely pathogenic ★★ same type
- F11 p.Ile359fs Pathogenic ★★ same type
- F11 p.Ile481fs Pathogenic ★★ same type
- F11 p.Leu442fs Pathogenic ★★ same type
- F11 p.Leu483fs Pathogenic/Likely 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/f11-p-ser99fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown