FXN p.Pro35=
c.105A>C · rs1236199615 · VCV2659238
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,438,728)
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 0.32 | GERP -1.7 |
| Overall | ||
| CADD | 6.698 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,438,728). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- FXN
- Protein
- p.Pro35=
- Coding
- c.105A>C
- MANE Select
- NM_000144
- dbSNP
- rs1236199615
- Type
- single nucleotide variant
- Location
- chr9:69035887 (GRCh38)
- Gene constraint
- LOEUF 0.809 · pLI 0.16 (gnomAD)
- Structure
- AlphaFold pLDDT 75.93 · 19 PDB
Similar variants
- FXN p.Pro35Leu Uncertain significance ★ ⚠ same residue
- FXN p.Leu106Ser Pathogenic ★★ same type
- FXN p.Met1Ile Pathogenic ★★ same type
- FXN p.Arg43His Uncertain significance ★★ ⚠ same type
- FXN p.Gly138Arg Uncertain significance ★★ ⚠ same type
- FXN p.Leu24Phe Uncertain significance ★★ ⚠ same type
- FXN p.Leu33Val Uncertain significance ★★ ⚠ same type
- FXN p.Pro30Thr Uncertain significance ★★ ⚠ 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/fxn-p-pro35 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown