FARSA p.Val377=
c.1131G>A · rs113870503 · VCV3056955
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.3%, 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 -0.097 | GERP -0.97, phastCons 0.56 |
| Overall | ||
| CADD | 4.283 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.3%
African / African-American · 970/74,814 alleles
Filtering AF
1.23%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.2%
Overall
0.0726%
1,157/1,594,498 alleles · low-frequency
exomes 603/1,442,152 · genomes 554/152,346 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.3% | 77 |
| Remaining individualsnot grpmax-eligible | 0.156% | 641 |
| Admixed American | 0.0931% | 1,075 |
| Middle Eastern | 0.0836% | 1,197 |
| European (non-Finnish) | 0.00257% | 38,914 |
| South Asian | 0.00113% | 88,504 |
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.Val377=
- Coding
- c.1131G>A
- MANE Select
- NM_004461
- dbSNP
- rs113870503
- Type
- single nucleotide variant
- Location
- chr19:12924703 (GRCh38)
- Gene constraint
- LOEUF 0.784 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.43 · 3 PDB
- Residue 377
- a β-strand
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-val377 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown