ARSB p.Pro445=
c.1335A>T · VCV3912026
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00133%, afr)
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 |
|---|---|---|
| Pangolin | Δ0.41 | loss · gain 0.01 · not in the SpliceAI release · independent |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 1.8, phastCons 1 |
| Overall | ||
| CADD | 20.6 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00133%
African / African-American · 1/74,932 alleles
Overall
6.84e-05%
1/1,461,764 alleles · very rare
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
- ARSB
- Protein
- p.Pro445=
- Coding
- c.1335A>T
- MANE Select
- NM_020427 · reported on NM_000046
- Type
- single nucleotide variant
- Location
- chr5:78781853 (GRCh38)
- Structure
- AlphaFold pLDDT 84.32 · 2 PDB
Similar variants
- ARSB p.Pro445Leu Conflicting classifications of pathogenicity ★ ⚠ same residue
- ARSB c.1142+1G>A Pathogenic ★★ same type
- ARSB c.1142+1G>T Pathogenic ★★ same type
- ARSB c.1142+2T>A Pathogenic/Likely pathogenic ★★ same type
- ARSB c.1142+2T>C Pathogenic ★★ same type
- ARSB c.1143-1G>A Pathogenic/Likely pathogenic ★★ same type
- ARSB c.1143-1G>C Pathogenic ★★ same type
- ARSB c.1143-8T>G Pathogenic/Likely 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/arsb-p-pro445 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown