ADAM8 p.Pro788=
c.2364C>T · VCV4227452
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.39%, eas)
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 -0.43 | GERP -2.3 |
| Overall | ||
| CADD | 1.799 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.39%
East Asian · 160/40,978 alleles
Filtering AF
0.341%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.322%
Overall
0.0131%
203/1,551,458 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.39% | 256 |
| Remaining individualsnot grpmax-eligible | 0.03% | 3,330 |
| African / African-American | 0.0214% | 4,673 |
| South Asian | 0.0048% | 20,835 |
| Admixed American | 0.00191% | 52,272 |
| European (non-Finnish) | 0.000435% | 229,865 |
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
- ADAM8
- Protein
- p.Pro788=
- Coding
- c.2364C>T
- MANE Select
- NM_001109
- Type
- single nucleotide variant
- Location
- chr10:133263721 (GRCh38)
- Gene constraint
- LOEUF 1.423 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.28 · 1 PDB
- Residue 788
- the 'disordered' region
Similar variants
- ADAM8 p.Ala118= Benign ★★ same type
- ADAM8 p.Ala490Thr Benign ★★ same type
- ADAM8 p.Arg36His Benign ★★ ⚠ same type
- ADAM8 p.Arg433Cys Benign ★★ ⚠ same type
- ADAM8 c.228-2A>G Uncertain significance ★ same type
- ADAM8 p.Ala119Ser Uncertain significance ★ ⚠ same type
- ADAM8 p.Ala119Thr Uncertain significance ★ ⚠ same type
- ADAM8 p.Ala164Ser 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/adam8-p-pro788 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown