FH p.Pro209fs
c.624dup · VCV4730546
Pathogenic
Single submitter
Classification
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 in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FH
- Protein
- p.Pro209fs
- Coding
- c.624dup
- MANE Select
- NM_000143
- Type
- Duplication
- Location
- chr1:241508716 (GRCh38)
- Gene constraint
- LOEUF 0.599 · pLI 0.27 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 92.92 · 8 PDB
- Residue 209
- an α-helix
Similar variants
- FH p.Pro209Arg Uncertain significance ★★ ⚠ same residue
- FH p.Pro209Leu Uncertain significance ★ ⚠ same residue
- FH p.Pro209= Likely benign ★ same residue
- FH p.Ala468fs Pathogenic ★★ same type
- FH p.Asn107Ter Pathogenic ★★ same type
- FH p.Asn446fs Pathogenic ★★ same type
- FH p.Gly275fs Pathogenic ★★ same type
- FH p.Ile81fs 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/fh-p-pro209fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown