FARSB p.Pro545=
c.1635C>T · rs377716916 · VCV2190263
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00442%, sas)
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 | GERP -4.2 |
| Overall | ||
| CADD | 0.176 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00442%
South Asian · 4/90,508 alleles
Filtering AF
0.00143%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000895%
Overall
0.00124%
20/1,611,676 alleles · very rare
exomes 18/1,459,566 · genomes 2/152,110 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00442% | 22,627 |
| African / African-American | 0.00268% | 37,368 |
| East Asian | 0.00223% | 44,842 |
| Admixed American | 0.00168% | 59,412 |
| European (non-Finnish) | 0.00102% | 98,279 |
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.Pro545=
- Coding
- c.1635C>T
- MANE Select
- NM_005687
- dbSNP
- rs377716916
- Type
- single nucleotide variant
- Location
- chr2:222572006 (GRCh38)
- Gene constraint
- LOEUF 1.131 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.71 · 3 PDB
- Residue 545
- a β-strand
Similar variants
- 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
- FARSB p.Arg466Cys 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-pro545 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown