CDAN1 p.Val181=
c.543A>C · rs763029514 · VCV2030274
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.47e-05%, nfe)
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 -0.44 | GERP -0.12, phastCons 0.19 |
| Overall | ||
| CADD | 8.117 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.47e-05%
European (non-Finnish) · 1/1,179,952 alleles
Overall
6.84e-05%
1/1,461,626 alleles · very rare
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
- CDAN1
- Protein
- p.Val181=
- Coding
- c.543A>C
- MANE Select
- NM_138477
- dbSNP
- rs763029514
- Type
- single nucleotide variant
- Location
- chr15:42736328 (GRCh38)
- Gene constraint
- LOEUF 0.908 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 72.58 · 2 PDB
- Residue 181
- the 'disordered' region
Similar variants
- CDAN1 p.Val181Gly Uncertain significance ★ same residue
- CDAN1 p.Val181Ile Uncertain significance ★ ⚠ same residue
- CDAN1 p.Arg1042Trp Pathogenic/Likely pathogenic ★★ ⚠ same type
- CDAN1 p.Arg682Ter Pathogenic ★★ same type
- CDAN1 p.Arg714Trp Pathogenic/Likely pathogenic ★★ ⚠ same type
- CDAN1 p.Asn599Ser Likely pathogenic ★★ ⚠ same type
- CDAN1 p.Phe52Leu Pathogenic/Likely pathogenic ★★ ⚠ same type
- CDAN1 p.Pro1130Leu Pathogenic/Likely pathogenic ★★ 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/cdan1-p-val181 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown