Is STRADA p.Gly207Arg (c.619G>A) pathogenic?

STRADA p.Gly207Arg (c.619G>A) is classified Uncertain significance in STRADA (ClinVar, Multiple submitters, 2 submitters; last evaluated 2023-12-27). AlphaMissense: likely pathogenic (0.9891); Very rare (popmax 0.000847%, nfe); Associated with Inborn genetic diseases.

What condition is associated with STRADA p.Gly207Arg (c.619G>A)?

STRADA p.Gly207Arg (c.619G>A) is associated with Inborn genetic diseases (ClinVar).

How common is STRADA p.Gly207Arg (c.619G>A) in the general population?

STRADA p.Gly207Arg (c.619G>A) is very rare (popmax 0.000847%, nfe) (gnomAD).

What do computational predictors say about STRADA p.Gly207Arg (c.619G>A)?

AlphaMissense predicts likely pathogenic (score 0.9891) — an in-silico prediction, not a clinical call.

STRADA p.Gly207Arg

c.619G>A · rs745739301 · VCV3171577

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

AlphaMissense

likely pathogenic

0.9891 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.000847%, nfe)

Missense predictors

3/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.9891	likely pathogenic · top 9% in STRADA
REVEL	0.801	moderately pathogenic-leaning
SaProt	LLR -14.96	damaging
⇒ AlphaMissense, REVEL and SaProt all call this damaging.
Splicing
SpliceAI	Δ0.21	acceptor loss · deltas
Constraint at this position
Conservation	phyloP 7.7	GERP 1.8, phastCons 1
Regional constraint	o/e 0.81	unconstrained · MANE · 25 kb · p 5.3e-06 · regional, not allelic
Overall
CADD	32.0	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean damaging — 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 0.000847% European (non-Finnish) · 10/1,180,040 alleles

Filtering AF 0.000429% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000312%

Overall 0.00062% 10/1,614,036 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: STRADA
Protein: p.Gly207Arg
Coding: c.619G>A
MANE Select: NM_001003787
dbSNP: rs745739301
Type: single nucleotide variant
Location: chr17:63707381 (GRCh38)
Gene constraint: LOEUF 0.649 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 80.46 · 4 PDB
Residue 207: 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.Gly207Ala 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.His223Asp 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-gly207arg (accessed [today's date]).

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