APBB1 p.Ala371=
c.1113C>T · rs148143455 · VCV714496
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.02%, 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 -2.9 | GERP -3.6 |
| Overall | ||
| CADD | 5.555 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.02%
African / African-American · 762/75,034 alleles
Filtering AF
0.956%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.932%
Overall
0.0619%
999/1,614,110 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.02% | 98 |
| Middle Eastern | 0.115% | 866 |
| Admixed American | 0.108% | 923 |
| Remaining individualsnot grpmax-eligible | 0.0912% | 1,097 |
| European (non-Finnish) | 0.00881% | 11,346 |
| South Asian | 0.00329% | 30,359 |
| East Asian | 0.00223% | 44,878 |
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
- APBB1
- Protein
- p.Ala371=
- Coding
- c.1113C>T
- MANE Select
- NM_001164
- dbSNP
- rs148143455
- Type
- single nucleotide variant
- Location
- chr11:6402717 (GRCh38)
- Gene constraint
- LOEUF 0.401 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 60.75 · 11 PDB
- Residue 371
- the pid 1 domain; a β-strand
Similar variants
- SMPD1 p.Arg498Leu Pathogenic ★★ same type
- APBB1 p.Arg51Cys Benign ★★ ⚠ same type
- APBB1 p.Asn126= Benign ★★ same type
- APBB1 p.Leu385= Benign ★★ same type
- APBB1 p.Met327Val Likely benign ★★ same type
- APBB1 c.721+1G>T Uncertain significance ★ same type
- APBB1 p.Ala157Val Uncertain significance ★ ⚠ same type
- APBB1 p.Ala194Asp 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/apbb1-p-ala371 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown