Is ADRM1 p.Ala324Val (c.971C>T) pathogenic?

ADRM1 p.Ala324Val (c.971C>T) is classified Benign in ADRM1 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2018-07-31). AlphaMissense: likely benign (0.106); Low-frequency (popmax 1.44%, nfe).

How common is ADRM1 p.Ala324Val (c.971C>T) in the general population?

ADRM1 p.Ala324Val (c.971C>T) is low-frequency (popmax 1.44%, nfe) (gnomAD).

What do computational predictors say about ADRM1 p.Ala324Val (c.971C>T)?

AlphaMissense predicts likely benign (score 0.106) — an in-silico prediction, not a clinical call.

ADRM1 p.Ala324Val

c.971C>T · rs45576934 · VCV790289

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

AlphaMissense

likely benign

0.106 · ACMG-weighted

gnomAD v4.1

Rare

low-frequency (popmax 1.44%, nfe)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.106	likely benign
REVEL	0.248	benign-leaning
SaProt	LLR -7.07	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 5.9	GERP 1.7, phastCons 1
Regional constraint	o/e 0.88	unconstrained · MANE · 5,005 bp · p 0.0094 · regional, not allelic
Overall
CADD	24.3	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 1.44% European (non-Finnish) · 16,983/1,179,786 alleles

Filtering AF 1.42% ClinGen BA1/BS1 input FAF95, joint · FAF99 1.41%

Overall 1.2% 19,231/1,609,056 alleles · low-frequency

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	1.44%	69
Remaining individualsnot grpmax-eligible	1.11%	90
South Asian	0.771%	130
Admixed American	0.705%	142
Finnishnot grpmax-eligible	0.384%	260
Middle Eastern	0.231%	433
African / African-American	0.217%	460
Amishnot grpmax-eligible	0.11%	912
Ashkenazi Jewishnot grpmax-eligible	0.0743%	1,345
East Asian	0.00223%	44,874

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: ADRM1
Protein: p.Ala324Val
Coding: c.971C>T
MANE Select: NM_007002
dbSNP: rs45576934
Type: single nucleotide variant
Location: chr20:62308135 (GRCh38)
Gene constraint: LOEUF 0.188 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 64.34 · 21 PDB
Residue 324: the deubad domain; an α-helix; the 'interaction with uchl5' region

Full ADRM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ADRM1 p.Ala324Thr Uncertain significance ★ ⚠ same residue
ADRM1 p.Ala245= Benign ★★ same type
ADRM1 p.Asp266= Benign ★★ same type
ADRM1 p.Pro315= Benign ★★ same type
ADRM1 p.Ala149Gly Uncertain significance ★ ⚠ same type
ADRM1 p.Ala236Thr Uncertain significance ★ ⚠ same type
ADRM1 p.Ala239Thr Uncertain significance ★ ⚠ same type
ADRM1 p.Ala245Thr Uncertain significance ★ ⚠ same type

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/adrm1-p-ala324val (accessed [today's date]).

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