Is ARSF p.Ala481= (c.1443T>A) pathogenic?

ARSF p.Ala481= (c.1443T>A) is classified Likely benign in ARSF (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-08-08). Absent from gnomAD v4.1; Associated with ARSF-related disorder.

What condition is associated with ARSF p.Ala481= (c.1443T>A)?

ARSF p.Ala481= (c.1443T>A) is associated with ARSF-related disorder (ClinVar).

How common is ARSF p.Ala481= (c.1443T>A) in the general population?

ARSF p.Ala481= (c.1443T>A) is absent from gnomAD v4.1 (gnomAD).

ARSF p.Ala481=

c.1443T>A · rs2518537446 · VCV3041861

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

ARSF-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 -10	GERP -3.1
Overall
CADD	0.976	PHRED · no single calibrated threshold — expert panels disagree

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: ARSF
Protein: p.Ala481=
Coding: c.1443T>A
MANE Select: NM_001201539
dbSNP: rs2518537446
Type: single nucleotide variant
Location: chrX:3112226 (GRCh38)
Structure: AlphaFold pLDDT 90.98

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

Disease context

ARSF-related disorder

Similar variants

ARSF c.12-10T>G Uncertain significance same condition
ARSF p.Gly113Ala Uncertain significance ⚠ same condition
ARSF p.Arg179Cys Likely benign ⚠ same condition
ARSF p.Arg335Lys Benign same condition
ARSF p.Gly230Asp Benign same condition
ARSF p.Ser239Tyr Likely benign same condition
ARSF p.Thr55= Likely benign same condition
ARSF c.1102+5G>A Likely benign ★★ 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/arsf-p-ala481 (accessed [today's date]).

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