FH p.Pro137=
c.411T>A · rs2527332828 · VCV2110078
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/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.21 | acceptor loss, 16 bp away · masked 0 · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1 | GERP -4.2, phastCons 0.99 |
| Overall | ||
| CADD | 8.994 | 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
- FH
- Protein
- p.Pro137=
- Coding
- c.411T>A
- MANE Select
- NM_000143
- dbSNP
- rs2527332828
- Type
- single nucleotide variant
- Location
- chr1:241512111 (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.Pro137Arg Uncertain significance ★★ ⚠ same residue
- FH p.Pro137Leu Uncertain significance ★★ ⚠ same residue
- FH p.Pro137Ser Uncertain significance ★★ ⚠ same residue
- FH p.Pro137Ala Uncertain significance ★ ⚠ same residue
- FH c.1108+1G>A Pathogenic ★★ same type
- FH c.1108+1G>T Pathogenic/Likely pathogenic ★★ same type
- FH c.1236+1G>A Pathogenic/Likely pathogenic ★★ same type
- FH c.1236+1G>C 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-pro137 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown