Sugi Variant
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UNC45A/p.Arg819=

UNC45A p.Arg819=

c.2457A>C · VCV4808769

Likely benign Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.47e-05%, 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
ConservationphyloP 0.66GERP -1.7, phastCons 0.76
Overall
CADD14.81PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes
Grpmax group 8.47e-05% European (non-Finnish) · 1/1,179,992 alleles
Overall 6.2e-05% 1/1,613,898 alleles · very rare exomes 1/1,461,614 · genomes 0/152,284 · joint denominator

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.Arg819=
Coding
c.2457A>C
MANE Select
NM_018671
Type
single nucleotide variant
Location
chr15:90953190 (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-arg819 (accessed [today's date]).

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