FTCD p.Ala464Val
c.1391_1392delinsTG · rs2123481486 · VCV1443575
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
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 · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -11 | GERP -2.7 |
| Regional constraint | o/e 1.12 | unconstrained · MANE · 19 kb · p 0.00063 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. 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
- FTCD
- Protein
- p.Ala464Val
- Coding
- c.1391_1392delinsTG
- MANE Select
- NM_206965
- dbSNP
- rs2123481486
- Type
- Indel
- Location
- chr21:46138559 (GRCh38)
- Gene constraint
- LOEUF 1.61 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 95.30
- Residue 464
- the 'cyclodeaminase/cyclohydrolase' region
Similar variants
- FTCD p.Ala464= Benign ★★ same residue
- FTCD p.Ala362fs Likely pathogenic ★ same condition
- FTCD c.969-15_969-14delinsTT Likely benign ★ same condition
- FTCD p.Ala62fs Likely pathogenic ★★ same condition
- FTCD p.Arg255Ter Pathogenic ★★ same condition
- FTCD p.Arg71Ter Pathogenic/Likely pathogenic ★★ same condition
- FTCD p.Leu536Ter Pathogenic/Likely pathogenic ★★ same condition
- FTCD p.Pro331fs Pathogenic/Likely pathogenic ★★ 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-ala464val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown