Is UNC45A p.Pro919= (c.2757T>G) pathogenic?

UNC45A p.Pro919= (c.2757T>G) is classified Likely benign in UNC45A (ClinVar, Single submitter, 1 submitter; last evaluated 2021-02-14). Very rare (popmax 0.00271%, nfe).

How common is UNC45A p.Pro919= (c.2757T>G) in the general population?

UNC45A p.Pro919= (c.2757T>G) is very rare (popmax 0.00271%, nfe) (gnomAD).

UNC45A p.Pro919=

c.2757T>G · rs748949167 · VCV1533268

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00271%, nfe)

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -16	GERP -3.8
Overall
CADD	0.106	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00271% European (non-Finnish) · 32/1,180,038 alleles

Filtering AF 0.00196% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00168%

Overall 0.00211% 34/1,614,030 alleles · very rare exomes 33/1,461,818 · genomes 1/152,212 · joint denominator

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.00271%	36,876
Admixed American	0.00167%	60,006
Remaining individualsnot grpmax-eligible	0.0016%	62,486

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: UNC45A
Protein: p.Pro919=
Coding: c.2757T>G
MANE Select: NM_018671
dbSNP: rs748949167
Type: single nucleotide variant
Location: chr15:90953638 (GRCh38)

Full UNC45A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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/unc45a-p-pro919 (accessed [today's date]).

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