UFSP2 p.Glu321=
c.963G>A · rs147970664 · VCV779237
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.9%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.12 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.29 | GERP 0.003, phastCons 0.008 |
| Overall | ||
| CADD | 5.863 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.9%
European (non-Finnish) · 10,616/1,179,984 alleles
Filtering AF
0.885%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.879%
Overall
0.726%
11,714/1,614,138 alleles · rare
exomes 10,962/1,461,838 · genomes 752/152,300 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.9% | 111 |
| Remaining individualsnot grpmax-eligible | 0.571% | 175 |
| Finnishnot grpmax-eligible | 0.456% | 219 |
| Admixed American | 0.258% | 387 |
| Ashkenazi Jewishnot grpmax-eligible | 0.24% | 417 |
| South Asian | 0.154% | 651 |
| African / African-American | 0.105% | 950 |
| Middle Eastern | 0.066% | 1,516 |
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
- UFSP2
- Protein
- p.Glu321=
- Coding
- c.963G>A
- MANE Select
- NM_018359
- dbSNP
- rs147970664
- Type
- single nucleotide variant
- Location
- chr4:185408304 (GRCh38)
- Gene constraint
- LOEUF 0.935 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.21
Similar variants
- UFSP2 p.Asp426Ala Pathogenic ★★ same type
- UFSP2 p.His428Arg Likely pathogenic ★★ same type
- UFSP2 p.Gly286Ala Uncertain significance ★★ ⚠ same type
- UFSP2 p.Gly346Arg Uncertain significance ★★ ⚠ same type
- UFSP2 p.Ala432= Benign ★★ same type
- UFSP2 p.Cys311Ser Benign/Likely benign ★★ ⚠ same type
- UFSP2 p.Asp426Gly Likely pathogenic ★ same type
- UFSP2 p.Tyr290His 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/ufsp2-p-glu321 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown