Is ABCD1 p.Ala650= (c.1950G>A) pathogenic?

ABCD1 p.Ala650= (c.1950G>A) is classified Likely benign in ABCD1 (ClinVar, Multiple submitters, 4 submitters; last evaluated 2026-04-01). Very rare (popmax 0.00548%, sas); Associated with adrenoleukodystrophy.

What condition is associated with ABCD1 p.Ala650= (c.1950G>A)?

ABCD1 p.Ala650= (c.1950G>A) is associated with adrenoleukodystrophy (ClinVar).

How common is ABCD1 p.Ala650= (c.1950G>A) in the general population?

ABCD1 p.Ala650= (c.1950G>A) is very rare (popmax 0.00548%, sas) (gnomAD).

How is X-linked adrenoleukodystrophy inherited?

Typically X-linked dominant (Orphanet). A genetic counselor can assess individual risk for a family.

ABCD1 p.Ala650=

c.1950G>A · rs74315281 · VCV914028

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00548%, sas)

Conditions

adrenoleukodystrophy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -6.3	GERP -3.1
Overall
CADD	0.031	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00548% South Asian · 3/54,771 alleles

Filtering AF 0.00145% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000703%

Overall 0.000418% 5/1,195,421 alleles · very rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.00548%	18,257
Admixed American	0.00227%	44,084
European (non-Finnish)	0.000113%	888,320

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: ABCD1
Protein: p.Ala650=
Coding: c.1950G>A
dbSNP: rs74315281
Type: single nucleotide variant
Location: chrX:153743305 (GRCh38)

Full ABCD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

adrenoleukodystrophy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For X-linked adrenoleukodystrophy (Orphanet):

Inheritance: X-linked dominant
Onset: Adolescent, Adult, Childhood, Elderly
Prevalence: 1-9 / 1 000 000 (Israel)

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/abcd1-p-ala650 (accessed [today's date]).

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