Is SLC45A2 p.Phe47= (c.141C>T) pathogenic?

SLC45A2 p.Phe47= (c.141C>T) is classified Uncertain significance in SLC45A2 (ClinVar, Single submitter, 1 submitter; last evaluated 2017-04-27). Absent from gnomAD v4.1; Associated with oculocutaneous albinism type 4.

What condition is associated with SLC45A2 p.Phe47= (c.141C>T)?

SLC45A2 p.Phe47= (c.141C>T) is associated with oculocutaneous albinism type 4 (ClinVar).

How common is SLC45A2 p.Phe47= (c.141C>T) in the general population?

SLC45A2 p.Phe47= (c.141C>T) is absent from gnomAD v4.1 (gnomAD).

How is Oculocutaneous albinism type 4 inherited?

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

SLC45A2 p.Phe47=

c.141C>T · rs1753184180 · VCV908005

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

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 0.12	GERP -4.3, phastCons 0.28
Overall
CADD	1.224	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: SLC45A2
Protein: p.Phe47=
Coding: c.141C>T
MANE Select: NM_016180
dbSNP: rs1753184180
Type: single nucleotide variant
Location: chr5:33984443 (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 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
SLC45A2 p.Asp157Asn Pathogenic ★★ ⚠ same condition
SLC45A2 p.Asp160His Pathogenic/Likely pathogenic ★★ ⚠ same condition
SLC45A2 p.Asp93Asn 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-phe47 (accessed [today's date]).

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