Is KEAP1 p.Pro384= (c.1152C>T) pathogenic?

KEAP1 p.Pro384= (c.1152C>T) is classified Likely benign in KEAP1 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-03-01). Rare (popmax 0.275%, eas).

How common is KEAP1 p.Pro384= (c.1152C>T) in the general population?

KEAP1 p.Pro384= (c.1152C>T) is rare (popmax 0.275%, eas) (gnomAD).

KEAP1 p.Pro384=

c.1152C>T · rs201119783 · VCV2649293

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.275%, eas)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -15	GERP -4.5
Overall
CADD	0.045	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.275% East Asian · 116/42,200 alleles

Filtering AF 0.234% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.219%

Overall 0.00919% 144/1,566,510 alleles · rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.275%	364
South Asian	0.0197%	5,084
Remaining individualsnot grpmax-eligible	0.00827%	12,093
African / African-American	0.00271%	36,850
European (non-Finnish)	0.000346%	288,813

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: KEAP1
Protein: p.Pro384=
Coding: c.1152C>T
MANE Select: NM_203500
dbSNP: rs201119783
Type: single nucleotide variant
Location: chr19:10491750 (GRCh38)
Gene constraint: LOEUF 0.595 · pLI 0.09 (gnomAD)
Structure: AlphaFold pLDDT 90.44 · 122 PDB

Full KEAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

KEAP1 p.Ala30= Benign/Likely benign ★★ same type
KEAP1 p.Val31= Benign/Likely benign ★★ same type
KEAP1 p.Ala30Val Uncertain significance ★ ⚠ same type
KEAP1 p.Ala331Val Uncertain significance ★ ⚠ same type
KEAP1 p.Ala376Thr Uncertain significance ★ ⚠ same type
KEAP1 p.Ala407Thr Uncertain significance ★ ⚠ same type
KEAP1 p.Arg15Gln Uncertain significance ★ ⚠ same type
KEAP1 p.Arg326His 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/keap1-p-pro384 (accessed [today's date]).

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