CDNF p.Tyr167=
c.501T>C · rs61746971 · VCV786148
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 5.12%, afr) — too common for a highly-penetrant pathogenic allele
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 -4.9 | |
| Overall | ||
| CADD | 0.022 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
5.12%
African / African-American · 3,839/74,992 alleles
Filtering AF
4.98%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.93%
Overall
0.272%
4,397/1,614,060 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 5.12% | 20 |
| Remaining individualsnot grpmax-eligible | 0.378% | 265 |
| Admixed American | 0.37% | 270 |
| Middle Eastern | 0.132% | 758 |
| South Asian | 0.0538% | 1,859 |
| European (non-Finnish) | 0.00356% | 28,095 |
| East Asian | 0.00223% | 44,890 |
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
- CDNF
- Protein
- p.Tyr167=
- Coding
- c.501T>C
- MANE Select
- NM_001029954
- dbSNP
- rs61746971
- Type
- single nucleotide variant
- Location
- chr10:14820043 (GRCh38)
- Gene constraint
- LOEUF 1.332 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 80.80 · 6 PDB
- Residue 167
- an α-helix
Similar variants
- CDNF p.Ala135Ser Benign ★★ same type
- CDNF p.Ser121Arg 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/cdnf-p-tyr167 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown