ABCA1 p.Ala937=
c.2811G>C · rs147290375 · VCV1537079
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000339%, 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 -9.6 | GERP -3.9 |
| Overall | ||
| CADD | 0.162 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000339%
European (non-Finnish) · 4/1,179,964 alleles
Filtering AF
7.9e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5.4e-05%
Overall
0.000274%
4/1,461,456 alleles · very rare
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
- ABCA1
- Protein
- p.Ala937=
- Coding
- c.2811G>C
- MANE Select
- NM_005502
- dbSNP
- rs147290375
- Type
- single nucleotide variant
- Location
- chr9:104822513 (GRCh38)
- Gene constraint
- LOEUF 0.563 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.50 · 7 PDB
- Residue 937
- the abc transporter 1 domain; a β-strand; a binding site; a UniProt-annotated variant site (in tgd)
Similar variants
- ABCA1 p.Ala937Val Pathogenic same residue
- ABCA1 c.4175+1G>T Pathogenic/Likely pathogenic ★★ same type
- ABCA1 c.4274+1G>A Likely pathogenic ★★ same type
- ABCA1 c.5237+3A>C Likely pathogenic ★★ same type
- ABCA1 p.Arg2080Trp Likely pathogenic ★★ same type
- ABCA1 p.Arg557Ter Pathogenic/Likely pathogenic ★★ same type
- ABCA1 p.Arg587Trp Pathogenic/Likely pathogenic ★★ same type
- ABCA1 p.Asn1800His Pathogenic/Likely pathogenic ★★ ⚠ 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/abca1-p-ala937 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown