DNAJB13 p.Pro281=
c.843G>A · VCV3718645
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
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. | ||
| REVEL | 0.072 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -7.8 | GERP -8.3 |
| Overall | ||
| CADD | 0.612 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00223%
East Asian · 1/44,822 alleles
Filtering AF
0.000689%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000539%
Overall
0.00106%
17/1,611,204 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00223% | 44,822 |
| Admixed American | 0.00168% | 59,608 |
| African / African-American | 0.00134% | 74,888 |
| European (non-Finnish) | 0.00119% | 84,191 |
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
- DNAJB13
- Protein
- p.Pro281=
- Coding
- c.843G>A
- MANE Select
- NM_153614
- Type
- single nucleotide variant
- Location
- chr11:73970006 (GRCh38)
- Gene constraint
- LOEUF 0.9 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.81 · 1 PDB
Similar variants
- DNAJB13 p.Pro281Leu Uncertain significance ★ ⚠ same residue
- DNAJB13 p.Pro281Ser Uncertain significance ★ ⚠ same residue
- DNAJB13 p.Gln136Ter Pathogenic/Likely pathogenic ★★ same type
- DNAJB13 p.Arg131Gln Uncertain significance ★★ ⚠ same type
- DNAJB13 p.Arg142Gln Uncertain significance ★★ ⚠ same type
- DNAJB13 p.Arg222Cys Uncertain significance ★★ ⚠ same type
- DNAJB13 p.Arg301Cys Uncertain significance ★★ ⚠ same type
- DNAJB13 p.Asn14Asp 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/dnajb13-p-pro281 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown