UFSP2 p.Val345=
c.1035C>T · rs375980105 · VCV3051222
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.064%, afr)
Conditions
1
UFSP2-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.099 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -7.1 | GERP -5.5 |
| Overall | ||
| CADD | 0.229 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.064%
African / African-American · 48/75,022 alleles
Filtering AF
0.0495%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0444%
Overall
0.0103%
166/1,613,808 alleles · ultra-rare
exomes 125/1,461,600 · genomes 41/152,208 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.064% | 1,563 |
| Remaining individualsnot grpmax-eligible | 0.0208% | 4,808 |
| South Asian | 0.0165% | 6,071 |
| Admixed American | 0.01% | 10,000 |
| European (non-Finnish) | 0.00712% | 14,045 |
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.Val345=
- Coding
- c.1035C>T
- MANE Select
- NM_018359
- dbSNP
- rs375980105
- Type
- single nucleotide variant
- Location
- chr4:185408022 (GRCh38)
- Gene constraint
- LOEUF 0.935 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.21
Disease context
UFSP2-related disorder
Similar variants
- UFSP2 p.Tyr290His Pathogenic ★ same condition
- UFSP2 p.Ala333Thr Likely benign same condition
- UFSP2 p.Ala342= Likely benign same condition
- 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
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-val345 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown