Is CCDC150 p.Gln112Arg (c.335A>G) pathogenic?

CCDC150 p.Gln112Arg (c.335A>G) is classified Uncertain significance in CCDC150 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-11-12). AlphaMissense: likely benign (0.2054); Very rare (popmax 0.005%, amr).

How common is CCDC150 p.Gln112Arg (c.335A>G) in the general population?

CCDC150 p.Gln112Arg (c.335A>G) is very rare (popmax 0.005%, amr) (gnomAD).

What do computational predictors say about CCDC150 p.Gln112Arg (c.335A>G)?

AlphaMissense predicts likely benign (score 0.2054) — an in-silico prediction, not a clinical call.

CCDC150 p.Gln112Arg

c.335A>G · VCV4649186

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.2054 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.005%, amr)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.2054	likely benign
REVEL	0.159	moderately benign-leaning
SaProt	LLR -6.35	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 8.9	GERP 1.4, phastCons 1
Regional constraint	o/e 1.03	unconstrained · MANE · 93 kb · p 0.22 · regional, not allelic
Overall
CADD	23.7	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 0.005% Admixed American · 3/59,994 alleles

Filtering AF 0.00133% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000668%

Overall 0.000248% 4/1,613,832 alleles · very rare

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.005%	19,998
European (non-Finnish)	8.48e-05%	1,179,856

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: CCDC150
Protein: p.Gln112Arg
Coding: c.335A>G
MANE Select: NM_001080539
Type: single nucleotide variant
Location: chr2:196656791 (GRCh38)
Gene constraint: LOEUF 1.112 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 74.19

Full CCDC150 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CCDC150 p.Ala166Ser Uncertain significance ★ ⚠ same type
CCDC150 p.Ala166Thr Uncertain significance ★ ⚠ same type
CCDC150 p.Ala183Ser Uncertain significance ★ ⚠ same type
CCDC150 p.Ala419Glu Uncertain significance ★ ⚠ same type
CCDC150 p.Ala438Val Uncertain significance ★ ⚠ same type
CCDC150 p.Ala443Thr Uncertain significance ★ ⚠ same type
CCDC150 p.Ala454Pro Uncertain significance ★ ⚠ same type
CCDC150 p.Ala462Thr 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/ccdc150-p-gln112arg (accessed [today's date]).

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