F8 p.Arg1715=
c.5143C>A · rs137852439 · VCV807870
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 8.4 | GERP 1.3, phastCons 1 |
| Overall | ||
| CADD | 9.681 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- F8
- Protein
- p.Arg1715=
- Coding
- c.5143C>A
- MANE Select
- NM_000132
- dbSNP
- rs137852439
- Type
- single nucleotide variant
- Location
- chrX:154928647 (GRCh38)
- Structure
- AlphaFold pLDDT 61.20 · 29 PDB
- Residue 1715
- the f5/8 type a 3 domain; the plastocyanin-like 5 domain; a UniProt-annotated variant site (in hema; mild); a β-strand
Similar variants
- F8 p.Arg1715Ter Pathogenic ★★ same residue
- F8 p.Arg1715Gly Likely pathogenic ★ same residue
- F8 p.Arg1715Gln Conflicting classifications of pathogenicity ★ ⚠ same residue
- F8 c.6429+2T>A Pathogenic ★★★ same type
- F8 p.Ala111Thr Likely pathogenic ★★★ same type
- F8 p.Ala2220Pro Pathogenic ★★★ same type
- F8 p.Ala415Asp Likely pathogenic ★★★ same type
- F8 p.Ala415Val 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-arg1715 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown