Is UNC45A p.Phe812= (c.2436C>T) pathogenic?

UNC45A p.Phe812= (c.2436C>T) is classified Likely benign in UNC45A (ClinVar, Single submitter, 1 submitter; last evaluated 2025-12-28). Rare (popmax 0.107%, afr).

How common is UNC45A p.Phe812= (c.2436C>T) in the general population?

UNC45A p.Phe812= (c.2436C>T) is rare (popmax 0.107%, afr) (gnomAD).

UNC45A p.Phe812=

c.2436C>T · rs147797974 · VCV1563380

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.107%, afr)

⚠ 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 -1.9	GERP -4.1
Overall
CADD	7.263	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.107% African / African-American · 80/75,058 alleles

Filtering AF 0.0877% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0808%

Overall 0.00601% 97/1,613,614 alleles · rare exomes 44/1,461,286 · genomes 53/152,328 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.107%	938
Admixed American	0.0117%	8,571
Remaining individualsnot grpmax-eligible	0.0048%	20,829
South Asian	0.0022%	45,509
European (non-Finnish)	0.000424%	235,964

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.Phe812=
Coding: c.2436C>T
MANE Select: NM_018671
dbSNP: rs147797974
Type: single nucleotide variant
Location: chr15:90953169 (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-phe812 (accessed [today's date]).

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