ADAMTS13 p.Pro841=
c.2523A>G · VCV4799307
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.039 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -3.3 | GERP -4.6 |
| Overall | ||
| CADD | 0.251 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ADAMTS13
- Protein
- p.Pro841=
- Coding
- c.2523A>G
- MANE Select
- NM_139027
- Type
- single nucleotide variant
- Location
- chr9:133444965 (GRCh38)
- Gene constraint
- LOEUF 0.917 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 76.00 · 5 PDB
- Residue 841
- the tsp type-1 4 domain
Similar variants
- ADAMTS13 c.1705+1G>A Likely pathogenic ★★ same type
- ADAMTS13 c.3044+1G>A Pathogenic/Likely pathogenic ★★ same type
- ADAMTS13 c.330+1G>A Pathogenic/Likely pathogenic ★★ same type
- ADAMTS13 p.Ala596Val Pathogenic ★★ same type
- ADAMTS13 p.Ala690Thr Likely pathogenic ★★ ⚠ same type
- ADAMTS13 p.Arg102Cys Pathogenic/Likely pathogenic ★★ ⚠ same type
- ADAMTS13 p.Arg102His Likely pathogenic ★★ ⚠ same type
- ADAMTS13 p.Arg1060Trp 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/adamts13-p-pro841 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown