Is CTF1 p.Arg107Ser (c.319C>A) pathogenic?

CTF1 p.Arg107Ser (c.319C>A) is classified Uncertain significance in CTF1 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-05-25). AlphaMissense: likely benign (0.3377); Very rare (popmax 0.000659%, nfe).

How common is CTF1 p.Arg107Ser (c.319C>A) in the general population?

CTF1 p.Arg107Ser (c.319C>A) is very rare (popmax 0.000659%, nfe) (gnomAD).

What do computational predictors say about CTF1 p.Arg107Ser (c.319C>A)?

AlphaMissense predicts likely benign (score 0.3377) — an in-silico prediction, not a clinical call.

CTF1 p.Arg107Ser

c.319C>A · rs727502950 · VCV654944

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

AlphaMissense

likely benign

0.3377 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.000659%, nfe)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.3377	likely benign
REVEL	0.202	benign-leaning
SaProt	LLR -5.72	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.8	GERP 0.18, phastCons 0.95
Regional constraint	o/e 0.94	unconstrained · MANE · 5,892 bp · p 0.33 · regional, not allelic
Overall
CADD	16.37	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.000659% European (non-Finnish) · 6/910,394 alleles

Filtering AF 0.000237% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000156%

Overall 0.000542% 6/1,106,898 alleles · very rare

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: CTF1
Protein: p.Arg107Ser
Coding: c.319C>A
MANE Select: NM_001330
dbSNP: rs727502950
Type: single nucleotide variant
Location: chr16:30902252 (GRCh38)
Gene constraint: LOEUF 1.959 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 85.94

Full CTF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CTF1 p.Arg107Cys Uncertain significance ★ ⚠ same residue
CTF1 c.*5C>A Uncertain significance ★★ same type
CTF1 p.Ala156Thr Uncertain significance ★★ ⚠ same type
CTF1 p.Ala34Val Uncertain significance ★★ ⚠ same type
CTF1 p.Arg176His Uncertain significance ★★ ⚠ same type
CTF1 p.Arg65Gln Uncertain significance ★★ ⚠ same type
CTF1 p.Asp191Glu Uncertain significance ★★ ⚠ same type
CTF1 p.Asp54Glu 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/ctf1-p-arg107ser (accessed [today's date]).

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