CDSN p.Ser440Arg
c.1320T>A · rs759099176 · VCV2491422
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.036 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.1 | |
| Overall | ||
| CADD | 14.22 | 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.Ser440Arg
- Coding
- c.1320T>A
- MANE Select
- NM_001264
- dbSNP
- rs759099176
- Type
- single nucleotide variant
- Location
- chr6:31116295 (GRCh38)
- Gene constraint
- LOEUF 0.77 · pLI 0.08 (gnomAD)
- Structure
- AlphaFold pLDDT 38.13
- Residue 440
- the 'disordered' region
Similar variants
- CDSN p.Ser440Gly Likely benign ★ same residue
- CDSN p.Cys423Ser Uncertain significance ★★ same condition
- CDSN p.Gly335Ala Uncertain significance ★★ same condition
- CDSN p.Pro226Ser Uncertain significance ★★ same condition
- CDSN p.Pro471Leu Uncertain significance ★★ same condition
- CDSN p.Ser159Gly Uncertain significance ★★ same condition
- CDSN p.Ser274Asn Uncertain significance ★★ same condition
- CDSN p.Val506Met Uncertain significance ★★ 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/cdsn-p-ser440arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown