Is STRADA p.Arg384Ter (c.1150C>T) pathogenic?

STRADA p.Arg384Ter (c.1150C>T) is classified Uncertain significance in STRADA (ClinVar, Single submitter, 1 submitter; last evaluated 2022-11-02). Very rare (popmax 0.00439%, sas).

How common is STRADA p.Arg384Ter (c.1150C>T) in the general population?

STRADA p.Arg384Ter (c.1150C>T) is very rare (popmax 0.00439%, sas) (gnomAD).

STRADA p.Arg384Ter

c.1150C>T · rs9915192 · VCV2501328

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Rare

very rare (popmax 0.00439%, sas)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function
NMD	escapes	premature termination codon in the last exon (13 of 13) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 8.7	GERP 1.5, phastCons 1
Overall
CADD	42.0	PHRED · no single calibrated threshold — expert panels disagree

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00439% South Asian · 4/91,068 alleles

Filtering AF 0.00143% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000891%

Overall 0.000372% 6/1,614,020 alleles · very rare exomes 6/1,461,714 · genomes 0/152,306 · joint denominator

Ancestry group	Frequency	1 in
South Asiangrpmax	0.00439%	22,767
Admixed American	0.00333%	30,008

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.Arg384Ter
Coding: c.1150C>T
MANE Select: NM_001003787
dbSNP: rs9915192
Type: single nucleotide variant
Location: chr17:63703745 (GRCh38)
Gene constraint: LOEUF 0.649 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 80.46 · 4 PDB

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

Similar variants

STRADA p.Arg384Gln Uncertain significance ★★ same residue
STRADA c.36+1G>A Likely pathogenic ★★ same type
STRADA c.37-1G>C Likely pathogenic ★★ same type
STRADA p.Arg228Ter Pathogenic ★★ same type
STRADA p.Ala45Val Uncertain significance ★★ ⚠ same type
STRADA p.Arg100Gln Uncertain significance ★★ ⚠ same type
STRADA p.Arg13Gln Uncertain significance ★★ same type
STRADA p.Arg13Leu 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/strada-p-arg384ter (accessed [today's date]).

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