UNC119 p.Ser200=
c.600C>G · VCV4807236
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00223%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -3.7 | GERP -3.6 |
| Overall | ||
| CADD | 0.721 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00223%
East Asian · 1/44,886 alleles
Overall
6.2e-05%
1/1,614,186 alleles · very rare
exomes 1/1,461,882 · genomes 0/152,304 · joint denominator
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
- UNC119
- Protein
- p.Ser200=
- Coding
- c.600C>G
- MANE Select
- NM_005148
- Type
- single nucleotide variant
- Location
- chr17:28547687 (GRCh38)
- Gene constraint
- LOEUF 1.139 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 80.03 · 9 PDB
- Residue 200
- a UniProt-annotated variant site (in cord24; when expressed in transgenic mice, it results in age-dependent fundus lesions, defects in photoreceptor synaptic transmission and retinal degeneration); the 'required for centrosome localization' region; an α-helix
Similar variants
- UNC119 p.Arg113Trp Uncertain significance ★★ ⚠ same type
- UNC119 p.Arg118Gln Uncertain significance ★★ ⚠ same type
- UNC119 p.Arg118Trp Uncertain significance ★★ ⚠ same type
- UNC119 p.Arg119Trp Uncertain significance ★★ ⚠ same type
- UNC119 p.Arg127Cys Uncertain significance ★★ ⚠ same type
- UNC119 p.Arg127His Uncertain significance ★★ ⚠ same type
- UNC119 p.Arg130Cys Uncertain significance ★★ ⚠ same type
- UNC119 p.Arg139Ser Uncertain significance ★★ ⚠ 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/unc119-p-ser200 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown