ALCAM p.Asp81=
c.243C>T · rs147777853 · VCV711883
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.921%, afr)
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 -6.6 | GERP -5.3 |
| Overall | ||
| CADD | 6.623 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.921%
African / African-American · 691/75,016 alleles
Filtering AF
0.864%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.842%
Overall
0.0489%
789/1,614,008 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.921% | 109 |
| Remaining individualsnot grpmax-eligible | 0.0736% | 1,359 |
| Middle Eastern | 0.0495% | 2,021 |
| Admixed American | 0.0283% | 3,531 |
| South Asian | 0.00769% | 13,011 |
| East Asian | 0.00669% | 14,957 |
| European (non-Finnish) | 0.00186% | 53,633 |
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
- ALCAM
- Protein
- p.Asp81=
- Coding
- c.243C>T
- MANE Select
- NM_001627
- dbSNP
- rs147777853
- Type
- single nucleotide variant
- Location
- chr3:105524357 (GRCh38)
- Gene constraint
- LOEUF 0.474 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 86.13 · 1 PDB
- Residue 81
- a disulfide bond; the ig-like v-type 1 domain
Similar variants
- ALCAM p.His508= Benign/Likely benign ★★ same type
- ALCAM p.Leu254= Benign ★★ same type
- ALCAM p.Pro84Leu Benign ★★ ⚠ same type
- ALCAM p.Ser454= Benign/Likely benign ★★ same type
- ALCAM p.Thr301Met Benign ★★ ⚠ same type
- ALCAM p.Tyr224= Benign ★★ same type
- ALCAM p.Ala19Pro Uncertain significance ★ ⚠ same type
- ALCAM p.Ala19Thr 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/alcam-p-asp81 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown