F8 p.Lys2155fs
c.6464_6465del · rs387906463 · VCV10313
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 haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 23 of 26 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.7 | GERP 1.7, phastCons 1 |
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
- F8
- Protein
- p.Lys2155fs
- Coding
- c.6464_6465del
- MANE Select
- NM_000132
- dbSNP
- rs387906463
- Type
- Deletion
- Location
- chrX:154863192 (GRCh38)
- Structure
- AlphaFold pLDDT 61.20 · 29 PDB
- Residue 2155
- the f5/8 type c 1 domain; a disulfide bond; a β-strand
Disease context
hemophilia A — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Hemophilia A (Orphanet):
- Inheritance
- X-linked recessive
- Onset
- Childhood, Infancy, Neonatal
- Prevalence
- 1-9 / 100 000 (Worldwide)
Similar variants
- F8 p.Ile1213fs Pathogenic ★★★ same condition
- F8 p.Ile1374fs Pathogenic ★★★ same condition
- F8 p.Ile567fs Pathogenic ★★★ same condition
- F8 c.2113+461_2113+473del Pathogenic ★★ same condition
- F8 p.Ala1646fs Pathogenic ★★ same condition
- F8 p.Asn1460fs Pathogenic/Likely pathogenic ★★ same condition
- F8 p.Leu650fs Pathogenic ★★ same condition
- F8 p.Leu69_Phe70insTer 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/f8-p-lys2155fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown