Is UACA p.Val324= (c.972C>T) pathogenic?

UACA p.Val324= (c.972C>T) is classified Likely benign in UACA (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-02-18). Rare (popmax 0.93%, afr); Associated with UACA-related disorder.

What condition is associated with UACA p.Val324= (c.972C>T)?

UACA p.Val324= (c.972C>T) is associated with UACA-related disorder (ClinVar).

How common is UACA p.Val324= (c.972C>T) in the general population?

UACA p.Val324= (c.972C>T) is rare (popmax 0.93%, afr) (gnomAD).

UACA p.Val324=

c.972C>T · rs61746369 · VCV3052868

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.93%, afr)

Conditions

UACA-related disorder

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 2.9	GERP -0.58, phastCons 1
Overall
CADD	7.691	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.93% African / African-American · 694/74,626 alleles

Filtering AF 0.873% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.85%

Overall 0.0489% 785/1,606,596 alleles · rare exomes 369/1,454,422 · genomes 416/152,174 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.93%	108
Remaining individualsnot grpmax-eligible	0.0835%	1,197
Admixed American	0.0513%	1,951
Middle Eastern	0.0499%	2,005
South Asian	0.00223%	44,829
European (non-Finnish)	0.00034%	294,466

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: UACA
Protein: p.Val324=
Coding: c.972C>T
MANE Select: NM_018003
dbSNP: rs61746369
Type: single nucleotide variant
Location: chr15:70678126 (GRCh38)
Gene constraint: LOEUF 0.833 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 74.08

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

Disease context

UACA-related disorder

Similar variants

UACA p.Val324Phe Uncertain significance ★ ⚠ same residue
UACA c.79-6T>C Benign same condition
UACA c.822+5A>G Benign same condition
UACA c.999+9A>G Likely benign same condition
UACA p.Ala108= Likely benign same condition
UACA p.Ala621= Likely benign same condition
UACA p.Asn1336= Benign same condition
UACA p.Asn1336Ser 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/uaca-p-val324 (accessed [today's date]).

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