Is SLC45A2 p.Ala511= (c.1533G>A) pathogenic?

SLC45A2 p.Ala511= (c.1533G>A) is classified Conflicting classifications of pathogenicity in SLC45A2 (ClinVar, Conflicting submitters, 4 submitters; last evaluated 2026-01-21). Rare (popmax 0.193%, sas); Associated with oculocutaneous albinism type 4.

What condition is associated with SLC45A2 p.Ala511= (c.1533G>A)?

SLC45A2 p.Ala511= (c.1533G>A) is associated with oculocutaneous albinism type 4 (ClinVar).

How common is SLC45A2 p.Ala511= (c.1533G>A) in the general population?

SLC45A2 p.Ala511= (c.1533G>A) is rare (popmax 0.193%, sas) (gnomAD).

How is Oculocutaneous albinism type 4 inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

SLC45A2 p.Ala511=

c.1533G>A · rs373174326 · VCV353211

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 4 submitters

gnomAD v4.1

Rare

rare (popmax 0.193%, sas)

Conditions

oculocutaneous albinism type 4

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 -0.059	GERP -4.1, phastCons 0.16
Overall
CADD	5.052	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.193% South Asian · 176/91,090 alleles

Filtering AF 0.17% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.161%

Overall 0.0154% 249/1,614,254 alleles · rare exomes 225/1,461,894 · genomes 24/152,360 · joint denominator

Ancestry group	Frequency	1 in
South Asiangrpmax	0.193%	518
Middle Eastern	0.0495%	2,021
African / African-American	0.0213%	4,691
Remaining individualsnot grpmax-eligible	0.0176%	5,683
European (non-Finnish)	0.00339%	29,501
Admixed American	0.00333%	30,013
Finnishnot grpmax-eligible	0.00156%	64,044

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: SLC45A2
Protein: p.Ala511=
Coding: c.1533G>A
MANE Select: NM_016180
dbSNP: rs373174326
Type: single nucleotide variant
Location: chr5:33944708 (GRCh38)
Gene constraint: LOEUF 1.022 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.96

Full SLC45A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

oculocutaneous albinism type 4 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Oculocutaneous albinism type 4 (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal
Prevalence: 1-9 / 100 000 (Worldwide)

Similar variants

SLC45A2 p.Ala511Glu Pathogenic ★★ same residue
SLC45A2 p.Ala511Thr Uncertain significance ★ same residue
SLC45A2 p.Ala511Val Conflicting classifications of pathogenicity ★ ⚠ same residue
SLC45A2 c.1156+1G>C Pathogenic/Likely pathogenic ★★ same condition
SLC45A2 c.386-1G>A Pathogenic ★★ same condition
SLC45A2 p.Ala486Thr Pathogenic/Likely pathogenic ★★ same condition
SLC45A2 p.Arg102Gln Pathogenic/Likely pathogenic ★★ same condition
SLC45A2 p.Asn122Ser Pathogenic/Likely pathogenic ★★ ⚠ 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/slc45a2-p-ala511 (accessed [today's date]).

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