FH p.Pro13Val
c.37_38delinsGT · VCV4827306
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
hereditary neoplastic syndrome
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 -0.97 | GERP -3.2 |
| Regional constraint | o/e 1.12 | unconstrained · MANE · 6,014 bp · p 0.17 · regional, not allelic |
Variant & gene context
- Gene
- FH
- Protein
- p.Pro13Val
- Coding
- c.37_38delinsGT
- MANE Select
- NM_000143
- Type
- Indel
- Location
- chr1:241519685 (GRCh38)
- Gene constraint
- LOEUF 0.599 · pLI 0.27 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 92.92 · 8 PDB
Similar variants
- FH p.Pro13Ala Uncertain significance ★★ ⚠ same residue
- FH p.Pro13Leu Uncertain significance ★★ ⚠ same residue
- FH p.Pro13Ser Uncertain significance ★★ ⚠ same residue
- FH p.Pro13= Likely benign ★★ same residue
- FH p.Pro13Arg Conflicting classifications of pathogenicity ★ ⚠ same residue
- FH p.Pro13Thr Conflicting classifications of pathogenicity ★ ⚠ same residue
- FH c.1391-1_1391delinsTT Pathogenic/Likely pathogenic ★★ same condition
- FH p.Ala220Leu Uncertain significance ★★ 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/fh-p-pro13val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown