Is FTCD p.Gly191Ser (c.571G>A) pathogenic?

FTCD p.Gly191Ser (c.571G>A) is classified Conflicting classifications of pathogenicity in FTCD (ClinVar, Conflicting submitters, 2 submitters; last evaluated 2025-10-22). AlphaMissense: likely benign (0.0792); Ultra-rare (popmax 0.0167%, amr); Associated with Inborn genetic diseases.

What condition is associated with FTCD p.Gly191Ser (c.571G>A)?

FTCD p.Gly191Ser (c.571G>A) is associated with Inborn genetic diseases, formiminoglutamic aciduria (ClinVar).

How common is FTCD p.Gly191Ser (c.571G>A) in the general population?

FTCD p.Gly191Ser (c.571G>A) is ultra-rare (popmax 0.0167%, amr) (gnomAD).

What do computational predictors say about FTCD p.Gly191Ser (c.571G>A)?

AlphaMissense predicts likely benign (score 0.0792) — an in-silico prediction, not a clinical call.

FTCD p.Gly191Ser

c.571G>A · rs376603123 · VCV1385667

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 2 submitters

AlphaMissense

likely benign

0.0792 · ACMG-weighted

gnomAD v4.1

Rare

ultra-rare (popmax 0.0167%, amr)

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Inborn genetic diseases

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
AlphaMissense	0.0792	likely benign
REVEL	0.114	moderately benign-leaning
SaProt	LLR -10.66	damaging
⇒ SaProt calls this damaging; AlphaMissense and REVEL do not.
Splicing
SpliceAI	—	not looked up on this page · why
Pangolin	Δ0.35	gain · loss 0.00 · independent
Constraint at this position
Conservation	phyloP -0.51	GERP -0.8
Regional constraint	o/e 1.12	unconstrained · MANE · 19 kb · p 0.00063 · regional, not allelic
Overall
CADD	15.69	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

Grpmax group 0.0167% Admixed American · 10/60,010 alleles

Filtering AF 0.0125% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0119%

Overall 0.0125% 201/1,612,956 alleles · ultra-rare exomes 192/1,460,698 · genomes 9/152,258 · joint denominator

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.0167%	6,001
Middle Eastern	0.0164%	6,082
European (non-Finnish)	0.0143%	6,982
Remaining individualsnot grpmax-eligible	0.00961%	10,411
Finnishnot grpmax-eligible	0.00794%	12,597
East Asian	0.00668%	14,963
African / African-American	0.00534%	18,737
South Asian	0.00329%	30,365

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.Gly191Ser
Coding: c.571G>A
MANE Select: NM_206965
dbSNP: rs376603123
Type: single nucleotide variant
Location: chr21:46151623 (GRCh38)

Full FTCD gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: formiminoglutamic aciduria

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-gly191ser (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown