FTCD p.Leu4=
c.10C>T · rs1601360915 · VCV738169
Likely benign
Single submitter
Classification
Likely benign
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 | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 3.7 | GERP -0.62, phastCons 1 |
| Overall | ||
| CADD | 8.915 | 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
- FTCD
- Protein
- p.Leu4=
- Coding
- c.10C>T
- MANE Select
- NM_206965
- dbSNP
- rs1601360915
- Type
- single nucleotide variant
- Location
- chr21:46155514 (GRCh38)
- Gene constraint
- LOEUF 1.61 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 95.30
- Residue 4
- the 'formiminotransferase n-subdomain' region
Similar variants
- FTCD p.Arg255Ter Pathogenic ★★ same type
- FTCD p.Arg71Ter Pathogenic/Likely pathogenic ★★ same type
- FTCD p.Leu536Ter Pathogenic/Likely pathogenic ★★ same type
- FTCD p.Ala108Thr Uncertain significance ★★ ⚠ same type
- FTCD p.Ala159Val Uncertain significance ★★ ⚠ same type
- FTCD p.Ala352Val Uncertain significance ★★ ⚠ same type
- FTCD p.Ala361Val Uncertain significance ★★ same type
- FTCD p.Ala368Val 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/ftcd-p-leu4 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown