FAR1 p.Ala256=
c.768G>A · rs199571176 · VCV1409041
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0208%, mid)
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 1.6 | GERP 0.14, phastCons 1 |
| Overall | ||
| CADD | 19.89 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0208%
Middle Eastern · 1/4,808 alleles
Filtering AF
0.00558%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00517%
Overall
0.00569%
91/1,598,866 alleles · ultra-rare
exomes 83/1,446,844 · genomes 8/152,022 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0208% | 4,808 |
| European (non-Finnish) | 0.00682% | 14,665 |
| South Asian | 0.00451% | 22,148 |
| East Asian | 0.00447% | 22,350 |
| African / African-American | 0.00406% | 24,630 |
| Remaining individualsnot grpmax-eligible | 0.00162% | 61,806 |
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
- FAR1
- Protein
- p.Ala256=
- Coding
- c.768G>A
- MANE Select
- NM_032228
- dbSNP
- rs199571176
- Type
- single nucleotide variant
- Location
- chr11:13711808 (GRCh38)
- Gene constraint
- LOEUF 0.595 · pLI 0.57 (gnomAD)
- Structure
- AlphaFold pLDDT 94.13
Similar variants
- FAR1 p.Ala256Glu Uncertain significance ★ ⚠ same residue
- FAR1 p.Ala256Val Uncertain significance ★ ⚠ same residue
- FAR1 c.-7-2A>G Likely pathogenic ★★ same type
- FAR1 p.Arg480Cys Pathogenic/Likely pathogenic ★★ ⚠ same type
- FAR1 p.Arg480His Pathogenic/Likely pathogenic ★★ same type
- FAR1 p.Arg480Leu Pathogenic ★★ same type
- FAR1 c.546-13A>G Uncertain significance ★★ same type
- FAR1 p.Ala361Val 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/far1-p-ala256 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown