Is DUSP22 p.Pro191= (c.573G>A) pathogenic?

DUSP22 p.Pro191= (c.573G>A) is classified Benign in DUSP22 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2021-02-03). Common (popmax 49.3%, afr) — too common for a highly-penetrant pathogenic allele; Associated with DUSP22-related disorder.

What condition is associated with DUSP22 p.Pro191= (c.573G>A)?

DUSP22 p.Pro191= (c.573G>A) is associated with DUSP22-related disorder (ClinVar).

DUSP22 p.Pro191=

Q: How common is DUSP22 p.Pro191= (c.573G>A) in the general population?

DUSP22 p.Pro191= (c.573G>A) is common (popmax 49.3%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.573G>A · rs11242812 · VCV3059480

Benign No assertion criteria

Classification

Benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Common

common (popmax 49.3%, afr) — too common for a highly-penetrant pathogenic allele

Conditions

DUSP22-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.003	strongly benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -1.6	GERP -3.1
Overall
CADD	7.294	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 49.3% African / African-American · 36,774/74,656 alleles

Filtering AF 48.8% ClinGen BA1/BS1 input FAF95, joint · FAF99 48.7%

Overall 47.9% 768,168/1,604,758 alleles · common exomes 695,332/1,453,604 · genomes 72,836/151,154 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	49.3%	2
South Asian	48.9%	2
Amishnot grpmax-eligible	48.9%	2
Middle Eastern	48.8%	2
Admixed American	48.4%	2
European (non-Finnish)	47.8%	2
Remaining individualsnot grpmax-eligible	47.7%	2
Finnishnot grpmax-eligible	47.3%	2
East Asian	47.2%	2
Ashkenazi Jewishnot grpmax-eligible	46.2%	2

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: DUSP22
Protein: p.Pro191=
Coding: c.573G>A
MANE Select: NM_001286555
dbSNP: rs11242812
Type: single nucleotide variant
Location: chr6:348906 (GRCh38)
Gene constraint: LOEUF 1.407 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 93.64 · 8 PDB

Full DUSP22 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

DUSP22-related disorder

Similar variants

DUSP22 c.189-4C>T Likely benign same condition
DUSP22 c.-5C>T Likely benign same condition
DUSP22 c.*1871C>G Likely benign same condition
DUSP22 c.*1878G>A Benign same condition
DUSP22 c.*2G>A Likely benign same condition
DUSP22 c.*8G>A Likely benign same condition
DUSP22 p.Ala23= Likely benign same condition
DUSP22 p.Ala56= Likely benign 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/dusp22-p-pro191 (accessed [today's date]).

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