Is ADPRM p.Ala24Val (c.71C>T) pathogenic?

ADPRM p.Ala24Val (c.71C>T) is classified Uncertain significance in ADPRM (ClinVar, Single submitter, 1 submitter; last evaluated 2025-04-01). AlphaMissense: likely pathogenic (0.8624); Absent from gnomAD v4.1.

How common is ADPRM p.Ala24Val (c.71C>T) in the general population?

ADPRM p.Ala24Val (c.71C>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about ADPRM p.Ala24Val (c.71C>T)?

AlphaMissense predicts likely pathogenic (score 0.8624) — an in-silico prediction, not a clinical call.

ADPRM p.Ala24Val

c.71C>T · VCV4019861

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.8624 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

3/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.8624	likely pathogenic
REVEL	0.907	moderately pathogenic-leaning
SaProt	LLR -12.25	damaging
⇒ AlphaMissense, REVEL and SaProt all call this damaging.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 6	GERP 1.9, phastCons 1
Regional constraint	o/e 0.82	unconstrained · MANE · 6,214 bp · p 0.00019 · regional, not allelic
Overall
CADD	26.3	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean damaging — a triage signal, not a reclassification

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

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: ADPRM
Protein: p.Ala24Val
Coding: c.71C>T
MANE Select: NM_020233
Type: single nucleotide variant
Location: chr17:10704997 (GRCh38)
Gene constraint: LOEUF 0.959 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 94.59

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

Similar variants

ADPRM p.Ala248Thr Uncertain significance ★ ⚠ same type
ADPRM p.Arg16Cys Uncertain significance ★ ⚠ same type
ADPRM p.Arg324Lys Uncertain significance ★ ⚠ same type
ADPRM p.Arg42Trp Uncertain significance ★ ⚠ same type
ADPRM p.Asn80Lys Uncertain significance ★ ⚠ same type
ADPRM p.Asp74Glu Uncertain significance ★ ⚠ same type
ADPRM p.Asp77Asn Uncertain significance ★ ⚠ same type
ADPRM p.Asp95Glu 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/adprm-p-ala24val (accessed [today's date]).

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