Is CDSN p.Ala481Ser (c.1441G>T) pathogenic?

CDSN p.Ala481Ser (c.1441G>T) is classified Uncertain significance in CDSN (ClinVar, Single submitter, 1 submitter; last evaluated 2023-07-13). Absent from gnomAD v4.1.

How common is CDSN p.Ala481Ser (c.1441G>T) in the general population?

CDSN p.Ala481Ser (c.1441G>T) is absent from gnomAD v4.1 (gnomAD).

CDSN p.Ala481Ser

c.1441G>T · rs138093208 · VCV1918877

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.023	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.2	phastCons 0.97
Overall
CADD	18.85	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: CDSN
Protein: p.Ala481Ser
Coding: c.1441G>T
MANE Select: NM_001264
dbSNP: rs138093208
Type: single nucleotide variant
Location: chr6:31116174 (GRCh38)
Gene constraint: LOEUF 0.77 · pLI 0.08 (gnomAD)
Structure: AlphaFold pLDDT 38.13
Residue 481: the 'disordered' region

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

Similar variants

CDSN p.Ala481Thr Uncertain significance ★ same residue
CDSN p.Lys59Ter Pathogenic ★★ same type
CDSN p.Cys423Ser Uncertain significance ★★ same type
CDSN p.Gly335Ala Uncertain significance ★★ same type
CDSN p.Pro226Ser Uncertain significance ★★ same type
CDSN p.Pro282Thr Uncertain significance ★★ same type
CDSN p.Pro447Leu Uncertain significance ★★ same type
CDSN p.Pro471Leu Uncertain significance ★★ 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/cdsn-p-ala481ser (accessed [today's date]).

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