FTCD p.Asp120=
c.360C>T · VCV3341886
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0167%, mid)
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 -5.4 | GERP -2.4 |
| Overall | ||
| CADD | 0.161 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0167%
Middle Eastern · 1/5,994 alleles
Filtering AF
0.00366%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0024%
Overall
0.00185%
29/1,570,718 alleles · ultra-rare
exomes 26/1,418,376 · genomes 3/152,342 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0167% | 5,994 |
| Admixed American | 0.0093% | 10,758 |
| African / African-American | 0.00806% | 12,404 |
| East Asian | 0.00232% | 43,194 |
| Finnishnot grpmax-eligible | 0.00171% | 58,634 |
| Remaining individualsnot grpmax-eligible | 0.00164% | 60,872 |
| European (non-Finnish) | 0.00121% | 82,737 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- FTCD
- Protein
- p.Asp120=
- Coding
- c.360C>T
- MANE Select
- NM_206965
- Type
- single nucleotide variant
- Location
- chr21:46152914 (GRCh38)
- Gene constraint
- LOEUF 1.61 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 95.30
- Residue 120
- 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-asp120 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown