F8 p.Pro170His
c.509_510delinsAT · VCV3629683
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.7 | GERP -3.5 |
| Regional constraint | o/e 0.56 | unconstrained · MANE · 53 kb · p 1.5e-11 · regional, not allelic |
Variant & gene context
- Gene
- F8
- Protein
- p.Pro170His
- Coding
- c.509_510delinsAT
- MANE Select
- NM_000132
- Type
- Indel
- Location
- chrX:154993027 (GRCh38)
- Structure
- AlphaFold pLDDT 61.20 · 29 PDB
- Residue 170
- the f5/8 type a 1 domain; the plastocyanin-like 1 domain
Similar variants
- F8 p.Pro170Leu Uncertain significance ★ ⚠ same residue
- F8 p.Pro170Ser Conflicting classifications of pathogenicity ★ ⚠ same residue
- F8 p.Ala420fs Pathogenic ★ same type
- F8 p.Lys444fs Pathogenic ★ same type
- F8 p.Phe1794fs Pathogenic ★ same type
- F8 p.Ser428_Gln429delinsArgTer Pathogenic ★ same type
- F8 p.Ala2070_Leu2072delinsPheAsp Uncertain significance ★ same type
- F8 c.5374-224_5453delinsT 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/f8-p-pro170his (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown