FABP1 p.Ser4=
c.12C>T · rs144743993 · VCV749751
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.04%, 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 -4 | GERP -3.5 |
| Overall | ||
| CADD | 10.16 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.04%
African / African-American · 30/75,058 alleles
Filtering AF
0.0288%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0249%
Overall
0.00396%
64/1,614,188 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.04% | 2,502 |
| Middle Eastern | 0.0165% | 6,062 |
| South Asian | 0.0121% | 8,280 |
| East Asian | 0.00891% | 11,219 |
| Admixed American | 0.00666% | 15,007 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,628 |
| European (non-Finnish) | 0.000847% | 118,001 |
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
- FABP1
- Protein
- p.Ser4=
- Coding
- c.12C>T
- MANE Select
- NM_001443
- dbSNP
- rs144743993
- Type
- single nucleotide variant
- Location
- chr2:88128006 (GRCh38)
- Gene constraint
- LOEUF 1.487 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.25 · 37 PDB
Similar variants
- FABP1 p.Ser4Tyr Uncertain significance ★ ⚠ same residue
- FABP1 p.Asn14Tyr Uncertain significance ★ ⚠ same type
- FABP1 p.Asn44Ser Uncertain significance ★ ⚠ same type
- FABP1 p.Asp117Ala Uncertain significance ★ ⚠ same type
- FABP1 p.Gln8Arg Uncertain significance ★ ⚠ same type
- FABP1 p.Glu62Ala Uncertain significance ★ ⚠ same type
- FABP1 p.Gly116Asp Uncertain significance ★ ⚠ same type
- FABP1 p.Gly32Arg 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/fabp1-p-ser4 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown