FARSA p.Arg162=
c.486G>A · rs34795408 · VCV2649359
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.882%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.1 | GERP -1.5, phastCons 1 |
| Overall | ||
| CADD | 12.47 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.882%
South Asian · 803/91,092 alleles
Filtering AF
0.831%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.811%
Overall
0.338%
5,459/1,614,094 alleles · rare
exomes 5,117/1,461,774 · genomes 342/152,320 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.882% | 113 |
| Middle Eastern | 0.363% | 276 |
| European (non-Finnish) | 0.36% | 278 |
| Remaining individualsnot grpmax-eligible | 0.238% | 420 |
| Finnishnot grpmax-eligible | 0.169% | 593 |
| Admixed American | 0.127% | 790 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0574% | 1,741 |
| African / African-American | 0.044% | 2,274 |
| East Asian | 0.00223% | 44,880 |
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.Arg162=
- Coding
- c.486G>A
- MANE Select
- NM_004461
- dbSNP
- rs34795408
- Type
- single nucleotide variant
- Location
- chr19:12930240 (GRCh38)
- Gene constraint
- LOEUF 0.784 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.43 · 3 PDB
Similar variants
- FARSA p.Pro347Leu Likely pathogenic ★★ same type
- FARSA p.Arg338Cys Uncertain significance ★★ ⚠ same type
- FARSA p.Gly306Ser Uncertain significance ★★ ⚠ same type
- FARSA c.1027-17T>C Benign ★★ same type
- FARSA p.Arg271His Pathogenic ★ same type
- FARSA p.Phe256Leu Pathogenic ★ same type
- FARSA p.Ala148Thr Uncertain significance ★ ⚠ same type
- FARSA p.Ala283Val 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/farsa-p-arg162 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown