UNC45B p.Asp99=
c.297C>T · rs770156177 · VCV2050393
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0493%, mid)
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 -9.1 | GERP -3.4 |
| Overall | ||
| CADD | 2.746 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0493%
Middle Eastern · 3/6,084 alleles
Filtering AF
0.0177%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0147%
Overall
0.00372%
60/1,613,722 alleles · ultra-rare
exomes 43/1,461,526 · genomes 17/152,196 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0493% | 2,028 |
| African / African-American | 0.0267% | 3,745 |
| Admixed American | 0.0267% | 3,749 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,619 |
| East Asian | 0.00446% | 22,422 |
| South Asian | 0.0033% | 30,345 |
| European (non-Finnish) | 0.00102% | 98,321 |
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
- UNC45B
- Protein
- p.Asp99=
- Coding
- c.297C>T
- MANE Select
- NM_001267052
- dbSNP
- rs770156177
- Type
- single nucleotide variant
- Location
- chr17:35150139 (GRCh38)
- Gene constraint
- LOEUF 0.969 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.38
Similar variants
- UNC45B p.Arg752Gln Pathogenic ★★ same type
- UNC45B p.Ala626Gly Uncertain significance ★★ ⚠ same type
- UNC45B p.Arg481Cys Uncertain significance ★★ ⚠ same type
- UNC45B p.Arg622Gln Uncertain significance ★★ ⚠ same type
- UNC45B p.Arg713Gly Uncertain significance ★★ ⚠ same type
- UNC45B p.Arg752Trp Uncertain significance ★★ ⚠ same type
- UNC45B p.Asp496Val Uncertain significance ★★ ⚠ same type
- UNC45B p.Asp902Glu 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/unc45b-p-asp99 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown