FARSA p.Ala283=
c.849G>A · rs77092376 · VCV3044769
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.68%, afr)
Conditions
1
FARSA-related disorder
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 -8.6 | GERP -3.3 |
| Overall | ||
| CADD | 0.824 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.68%
African / African-American · 1,990/74,212 alleles
Filtering AF
2.58%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.54%
Overall
0.159%
2,528/1,589,218 alleles · low-frequency
exomes 1,342/1,437,022 · genomes 1,186/152,196 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.68% | 37 |
| East Asian | 0.51% | 196 |
| Admixed American | 0.222% | 450 |
| Remaining individualsnot grpmax-eligible | 0.173% | 579 |
| Middle Eastern | 0.134% | 744 |
| South Asian | 0.0238% | 4,197 |
| European (non-Finnish) | 0.00496% | 20,153 |
| Finnishnot grpmax-eligible | 0.0016% | 62,584 |
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
- FARSA
- Protein
- p.Ala283=
- Coding
- c.849G>A
- MANE Select
- NM_004461
- dbSNP
- rs77092376
- Type
- single nucleotide variant
- Location
- chr19:12925167 (GRCh38)
- Gene constraint
- LOEUF 0.784 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.43 · 3 PDB
Disease context
FARSA-related disorder
Similar variants
- FARSA p.Ala283Val Uncertain significance ★ ⚠ same residue
- FARSA p.Pro347Leu Likely pathogenic ★★ same condition
- FARSA p.Arg271= Likely benign same condition
- FARSA p.Gln341Arg Benign same condition
- FARSA p.Gly375= Likely benign same condition
- FARSA p.Ile471Thr Benign same condition
- FARSA p.Pro449= Benign same condition
- FARSA p.Val376Leu Benign same condition
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/farsa-p-ala283 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown