CHAD p.Leu226=
c.676C>T · rs35596951 · VCV778715
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.66%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not looked up on this page · why |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 3.9 | GERP 1.5, phastCons 1 |
| Overall | ||
| CADD | 8.116 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.66%
African / African-American · 2,749/75,054 alleles
Filtering AF
3.55%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.5%
Overall
0.209%
3,381/1,614,146 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.66% | 27 |
| Middle Eastern | 0.363% | 276 |
| Admixed American | 0.335% | 299 |
| Remaining individualsnot grpmax-eligible | 0.33% | 303 |
| European (non-Finnish) | 0.0169% | 5,900 |
| South Asian | 0.00329% | 30,356 |
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
- CHAD
- Protein
- p.Leu226=
- Coding
- c.676C>T
- MANE Select
- NM_025149 · reported on NM_001267
- dbSNP
- rs35596951
- Type
- single nucleotide variant
- Location
- chr17:50468138 (GRCh38)
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/chad-p-leu226 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown