Is STRADA p.Thr285Pro (c.853A>C) pathogenic?

STRADA p.Thr285Pro (c.853A>C) is classified Uncertain significance in STRADA (ClinVar, Single submitter, 1 submitter; last evaluated 2023-02-22). AlphaMissense: likely pathogenic (0.881); Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with STRADA p.Thr285Pro (c.853A>C)?

STRADA p.Thr285Pro (c.853A>C) is associated with Inborn genetic diseases (ClinVar).

How common is STRADA p.Thr285Pro (c.853A>C) in the general population?

STRADA p.Thr285Pro (c.853A>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about STRADA p.Thr285Pro (c.853A>C)?

AlphaMissense predicts likely pathogenic (score 0.881) — an in-silico prediction, not a clinical call.

STRADA p.Thr285Pro

c.853A>C · rs2143771383 · VCV2487779

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.881 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

2/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.881	likely pathogenic
REVEL	0.753	pathogenic-leaning
SaProt	LLR -7.21	tolerated
⇒ AlphaMissense and REVEL call this damaging; SaProt does not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 7.9	GERP 1.7, phastCons 1
Regional constraint	o/e 0.81	unconstrained · MANE · 25 kb · p 5.3e-06 · regional, not allelic
Overall
CADD	28.9	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

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: STRADA
Protein: p.Thr285Pro
Coding: c.853A>C
MANE Select: NM_001003787
dbSNP: rs2143771383
Type: single nucleotide variant
Location: chr17:63706640 (GRCh38)
Gene constraint: LOEUF 0.649 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 80.46 · 4 PDB
Residue 285: the protein kinase domain

Full STRADA 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

Similar variants

STRADA p.Thr285Ala Uncertain significance ★ ⚠ same residue
STRADA p.Arg100Gln Uncertain significance ★★ ⚠ same condition
STRADA p.Arg13Leu Uncertain significance ★★ ⚠ same condition
STRADA p.Asp232Gly Uncertain significance ★★ ⚠ same condition
STRADA p.Asp428Asn Uncertain significance ★★ ⚠ same condition
STRADA p.Glu422Lys Uncertain significance ★★ ⚠ same condition
STRADA p.Glu70Lys Uncertain significance ★★ ⚠ same condition
STRADA p.Gly207Arg Uncertain significance ★★ ⚠ 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/strada-p-thr285pro (accessed [today's date]).

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