UNC80 p.Val485=
c.1455G>A · rs867003731 · VCV1608432
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0834%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.61 | donor gain · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.42 | GERP -1, phastCons 0.98 |
| Overall | ||
| CADD | 17.01 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0834%
Middle Eastern · 5/5,992 alleles
Filtering AF
0.0328%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0213%
Overall
0.00103%
16/1,551,732 alleles · ultra-rare
exomes 14/1,399,478 · genomes 2/152,254 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0834% | 1,198 |
| African / African-American | 0.00137% | 73,134 |
| European (non-Finnish) | 0.000872% | 114,701 |
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
- UNC80
- Protein
- p.Val485=
- Coding
- c.1455G>A
- MANE Select
- NM_001371986
- dbSNP
- rs867003731
- Type
- single nucleotide variant
- Location
- chr2:209817028 (GRCh38)
- Gene constraint
- LOEUF 0.48 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Similar variants
- UNC80 c.4110+1G>C Pathogenic/Likely pathogenic ★★ same type
- UNC80 c.7287-1G>A Likely pathogenic ★★ same type
- UNC80 c.8772+1G>A Likely pathogenic ★★ same type
- UNC80 p.Arg1069Ter Pathogenic ★★ same type
- UNC80 p.Arg1076Ter Pathogenic ★★ same type
- UNC80 p.Arg1110Ter Pathogenic ★★ same type
- UNC80 p.Arg1179Ter Pathogenic/Likely pathogenic ★★ same type
- UNC80 p.Arg1285Ter 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/unc80-p-val485 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown