FARSB p.Arg401=
c.1201C>A · rs143154293 · VCV1600496
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.87%, amr)
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 0.97 | phastCons 0.81 |
| Overall | ||
| CADD | 7.953 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.87%
Admixed American · 1,120/59,944 alleles
Filtering AF
1.78%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.74%
Overall
0.0805%
1,298/1,611,640 alleles · low-frequency
exomes 1,082/1,459,680 · genomes 216/151,960 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 1.87% | 54 |
| East Asian | 0.21% | 477 |
| Remaining individualsnot grpmax-eligible | 0.0817% | 1,224 |
| African / African-American | 0.016% | 6,239 |
| Finnishnot grpmax-eligible | 0.00782% | 12,790 |
| South Asian | 0.0033% | 30,325 |
| European (non-Finnish) | 0.0011% | 90,620 |
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
- FARSB
- Protein
- p.Arg401=
- Coding
- c.1201C>A
- MANE Select
- NM_005687
- dbSNP
- rs143154293
- Type
- single nucleotide variant
- Location
- chr2:222623700 (GRCh38)
- Gene constraint
- LOEUF 1.131 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.71 · 3 PDB
- Residue 401
- a UniProt-annotated variant site (in rildbc1); an α-helix
Similar variants
- FARSB p.Arg401Gln Pathogenic ★ same residue
- FARSB c.848+1G>A Pathogenic/Likely pathogenic ★★ same type
- FARSB p.Glu285Lys Pathogenic/Likely pathogenic ★★ same type
- FARSB c.716-3C>T Uncertain significance ★★ same type
- FARSB p.Ala287Gly Uncertain significance ★★ ⚠ same type
- FARSB p.Arg127Cys Uncertain significance ★★ ⚠ same type
- FARSB p.Arg127His Uncertain significance ★★ ⚠ same type
- FARSB p.Arg135Leu 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/farsb-p-arg401 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown