FERRY3 p.Ala491=
c.1473G>A · rs777031348 · VCV1335092
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.045%, amr)
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 -2.3 | GERP -3.7 |
| Overall | ||
| CADD | 10.5 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.045%
Admixed American · 27/59,974 alleles
Filtering AF
0.0317%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0273%
Overall
0.00806%
130/1,613,028 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.045% | 2,221 |
| South Asian | 0.0286% | 3,502 |
| Remaining individualsnot grpmax-eligible | 0.00801% | 12,488 |
| European (non-Finnish) | 0.0056% | 17,868 |
| East Asian | 0.00446% | 22,417 |
| African / African-American | 0.00401% | 24,959 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,574 |
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
- FERRY3
- Protein
- p.Ala491=
- Coding
- c.1473G>A
- MANE Select
- NM_020374
- dbSNP
- rs777031348
- Type
- single nucleotide variant
- Location
- chr12:4491202 (GRCh38)
- Structure
- AlphaFold pLDDT 84.04
- Residue 491
- a UniProt-annotated variant site (in mrt66)
Similar variants
- FERRY3 p.Arg454Ter Pathogenic/Likely pathogenic ★★ same type
- FERRY3 c.1499-11T>G Benign/Likely benign ★★ same type
- FERRY3 p.Asp203= Likely benign ★★ same type
- FERRY3 p.Ile361Thr Benign/Likely benign ★★ same type
- FERRY3 p.Phe149= Likely benign ★★ same type
- C12orf4 p.Arg360Ter Likely pathogenic ★ same type
- FERRY3 c.729-1G>A Likely pathogenic ★ same type
- FERRY3 p.Arg167Ter Pathogenic ★ 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/ferry3-p-ala491 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown