F11 p.Ser196fs
c.586del · rs2477270976 · VCV2875436
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 6 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.4 | GERP 1.4, phastCons 0.006 |
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
- F11
- Protein
- p.Ser196fs
- Coding
- c.586del
- MANE Select
- NM_000128
- dbSNP
- rs2477270976
- Type
- Deletion
- Location
- chr4:186275885 (GRCh38)
- Gene constraint
- LOEUF 1.145 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.94 · 117 PDB
Similar variants
- 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
- F11 p.Tyr115fs 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-ser196fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown