FERRY3 p.Leu85=
c.253C>T · VCV4915165
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00133%, 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 2.5 | GERP -3, phastCons 0.99 |
| Overall | ||
| CADD | 6.448 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00133%
African / African-American · 1/74,964 alleles
Filtering AF
0.000764%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000605%
Overall
0.000992%
16/1,612,720 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00133% | 74,964 |
| European (non-Finnish) | 0.00127% | 78,639 |
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.Leu85=
- Coding
- c.253C>T
- MANE Select
- NM_020374
- Type
- single nucleotide variant
- Location
- chr12:4534228 (GRCh38)
- Structure
- AlphaFold pLDDT 84.04
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-leu85 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown