CRADD p.Arg166=
c.498T>C · rs754694826 · VCV793569
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00195%, 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 0.082 | GERP -0.91, phastCons 0.91 |
| Overall | ||
| CADD | 9.426 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00195%
European (non-Finnish) · 23/1,179,806 alleles
Filtering AF
0.0013%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00108%
Overall
0.00143%
23/1,613,738 alleles · very rare
exomes 22/1,461,562 · genomes 1/152,176 · joint denominator
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
- CRADD
- Protein
- p.Arg166=
- Coding
- c.498T>C
- MANE Select
- NM_003805
- dbSNP
- rs754694826
- Type
- single nucleotide variant
- Location
- chr12:93850169 (GRCh38)
- Gene constraint
- LOEUF 0.999 · pLI 0.03 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 79.97 · 3 PDB
- Residue 166
- the death domain; an α-helix
Similar variants
- CRADD p.Arg166His Uncertain significance ★★ ⚠ same residue
- CRADD p.Arg170His Pathogenic ★★ ⚠ same type
- CRADD p.Trp131Ter Pathogenic/Likely pathogenic ★★ same type
- CRADD c.-6-7T>C Uncertain significance ★★ same type
- CRADD p.Arg10Cys Uncertain significance ★★ same type
- CRADD p.Arg168Gln Uncertain significance ★★ ⚠ same type
- CRADD p.Asn45Ser Uncertain significance ★★ ⚠ same type
- CRADD p.Glu15Lys 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/cradd-p-arg166 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown