FTCD p.Pro95=
c.285C>T · rs572661766 · VCV2072834
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0392%, sas)
Conditions
2
Inborn genetic diseases
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 -20 | GERP -2.7 |
| Overall | ||
| CADD | 0.394 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0392%
South Asian · 33/84,256 alleles
Filtering AF
0.0286%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.025%
Overall
0.0101%
157/1,551,754 alleles · ultra-rare
exomes 142/1,399,428 · genomes 15/152,326 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0392% | 2,553 |
| Remaining individualsnot grpmax-eligible | 0.00997% | 10,025 |
| European (non-Finnish) | 0.00976% | 10,246 |
| African / African-American | 0.00681% | 14,681 |
| Admixed American | 0.00195% | 51,164 |
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.Pro95=
- Coding
- c.285C>T
- MANE Select
- NM_206965
- dbSNP
- rs572661766
- Type
- single nucleotide variant
- Location
- chr21:46152989 (GRCh38)
- Gene constraint
- LOEUF 1.61 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 95.30
- Residue 95
- the 'formiminotransferase n-subdomain' region
Similar variants
- FTCD p.Arg255Ter Pathogenic ★★ same condition
- FTCD p.Arg71Ter Pathogenic/Likely pathogenic ★★ same condition
- FTCD p.Leu536Ter Pathogenic/Likely pathogenic ★★ same condition
- FTCD p.Ala108Thr Uncertain significance ★★ ⚠ same condition
- FTCD p.Ala159Val Uncertain significance ★★ ⚠ same condition
- FTCD p.Ala352Val Uncertain significance ★★ ⚠ same condition
- FTCD p.Ala361Val Uncertain significance ★★ same condition
- FTCD p.Ala368Val Uncertain significance ★★ ⚠ same condition
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-pro95 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown