Is ADAR p.Ala980Ser (c.2938G>T) pathogenic?

ADAR p.Ala980Ser (c.2938G>T) is classified Uncertain significance in ADAR (ClinVar, Single submitter, 1 submitter; last evaluated 2025-11-12). AlphaMissense: likely benign (0.1006); Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with ADAR p.Ala980Ser (c.2938G>T)?

ADAR p.Ala980Ser (c.2938G>T) is associated with Inborn genetic diseases (ClinVar).

How common is ADAR p.Ala980Ser (c.2938G>T) in the general population?

ADAR p.Ala980Ser (c.2938G>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about ADAR p.Ala980Ser (c.2938G>T)?

AlphaMissense predicts likely benign (score 0.1006) — an in-silico prediction, not a clinical call.

ADAR p.Ala980Ser

c.2938G>T · VCV4568787

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1006 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.1006	likely benign
REVEL	0.052	moderately benign-leaning
SaProt	LLR -5.11	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 3.5	GERP 1.7, phastCons 1
Regional constraint	o/e 0.74	unconstrained · MANE · 17 kb · p 1.3e-17 · regional, not allelic
Overall
CADD	21.6	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — 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: ADAR
Protein: p.Ala980Ser
Coding: c.2938G>T
MANE Select: NM_001111
Type: single nucleotide variant
Location: chr1:154588206 (GRCh38)
Gene constraint: LOEUF 0.449 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 68.86 · 24 PDB
Residue 980: an α-helix; the a to i editase domain

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

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ADAR p.Ala980Asp Uncertain significance ★ ⚠ same residue
ADAR p.Ala980Val Uncertain significance ★ ⚠ same residue
ADAR p.Ala515Thr Uncertain significance ★★ ⚠ same condition
ADAR p.Ala549Gly Uncertain significance ★★ same condition
ADAR p.Ala787Val Uncertain significance ★★ ⚠ same condition
ADAR p.Arg1150Gln Uncertain significance ★★ ⚠ same condition
ADAR p.Arg360Gln Uncertain significance ★★ ⚠ same condition
ADAR p.Arg474Gln Uncertain significance ★★ ⚠ 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/adar-p-ala980ser (accessed [today's date]).

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