Is ATRIP p.Pro30Gln (c.89C>A) pathogenic?

ATRIP p.Pro30Gln (c.89C>A) is classified Uncertain significance in ATRIP (ClinVar, Single submitter, 1 submitter; last evaluated 2025-04-14). AlphaMissense: ambiguous (0.3404); Absent from gnomAD v4.1.

How common is ATRIP p.Pro30Gln (c.89C>A) in the general population?

ATRIP p.Pro30Gln (c.89C>A) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about ATRIP p.Pro30Gln (c.89C>A)?

AlphaMissense predicts ambiguous (score 0.3404) — an in-silico prediction, not a clinical call.

ATRIP p.Pro30Gln

c.89C>A · VCV3976135

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.3404 · ACMG-weighted

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,462,074)

Missense predictors

0/2 damaging

REVEL, SaProt · AlphaMissense no call

Computational evidence

Protein change
AlphaMissense	0.3404	ambiguous
REVEL	0.212	benign-leaning
SaProt	LLR -8.68	tolerated
⇒ REVEL and SaProt both call this tolerated; AlphaMissense makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 5.7	GERP 0.76, phastCons 1
Regional constraint	o/e 0.95	unconstrained · MANE · 19 kb · p 0.089 · regional, not allelic
Overall
CADD	25.0	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

No allele count reported in gnomAD v4.1 (AN 1,462,074). 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: ATRIP
Protein: p.Pro30Gln
Coding: c.89C>A
MANE Select: NM_130384
Type: single nucleotide variant
Location: chr3:48446934 (GRCh38)
Gene constraint: LOEUF 0.707 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 70.10 · 24 PDB
Residue 30: the 'disordered' region

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

Similar variants

ATRIP p.Pro30Ser Uncertain significance ★★ ⚠ same residue
ATRIP p.Pro30Arg Uncertain significance ★ ⚠ same residue
ATRIP p.Pro30Leu Uncertain significance ★ ⚠ same residue
ATRIP p.Pro30Thr Uncertain significance ★ ⚠ same residue
TREX1 p.Lys30Glu Uncertain significance ★ ⚠ same residue
ATRIP p.Pro30= Likely benign ★ same residue
TREX1 p.Arg114His Pathogenic/Likely pathogenic ★★ ⚠ same type
TREX1 p.Arg164Ter Pathogenic/Likely pathogenic ★★ 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/atrip-p-pro30gln (accessed [today's date]).

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