FTCD p.Glu147Gln
c.439G>C · VCV3359482
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.3938 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
1/2 damaging
REVEL, SaProt · AlphaMissense indeterminate
Computational evidence
| Protein change | ||
| AlphaMissense | 0.3938 | ambiguous |
|---|---|---|
| REVEL | 0.812 | moderately pathogenic-leaning |
| SaProt | LLR -8.52 | tolerated |
| ⇒ REVEL calls this damaging; SaProt does not; AlphaMissense is indeterminate. | ||
| Splicing | ||
| SpliceAI | Δ0.25 | donor loss · deltas |
| Constraint at this position | ||
| Conservation | phyloP 7.4 | GERP 1.2, phastCons 1 |
| Regional constraint | o/e 1.12 | unconstrained · MANE · 19 kb · p 0.00063 · regional, not allelic |
| Overall | ||
| CADD | 26.6 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
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.Glu147Gln
- Coding
- c.439G>C
- MANE Select
- NM_206965
- Type
- single nucleotide variant
- Location
- chr21:46151909 (GRCh38)
- Gene constraint
- LOEUF 1.61 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 95.30
- Residue 147
- the 'formiminotransferase n-subdomain' region
Similar variants
- FTCD p.Glu147Lys Uncertain significance ★★ ⚠ same residue
- 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
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-glu147gln (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown