ADPRS p.Ser161=
c.483C>A · rs11538708 · VCV3058436
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0952%, nfe)
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 -0.14 | GERP -2.9, phastCons 0.24 |
| Overall | ||
| CADD | 7.196 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0952%
European (non-Finnish) · 1,121/1,177,782 alleles
Filtering AF
0.0905%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0887%
Overall
0.0731%
1,177/1,610,650 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0952% | 1,051 |
| Remaining individualsnot grpmax-eligible | 0.0449% | 2,227 |
| Admixed American | 0.0217% | 4,601 |
| African / African-American | 0.0133% | 7,501 |
| Finnishnot grpmax-eligible | 0.00782% | 12,783 |
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
- ADPRS
- Protein
- p.Ser161=
- Coding
- c.483C>A
- MANE Select
- NM_017825
- dbSNP
- rs11538708
- Type
- single nucleotide variant
- Location
- chr1:36091792 (GRCh38)
- Gene constraint
- LOEUF 1.155 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.70 · 14 PDB
- Residue 161
- a UniProt-annotated variant site (in condsias; no detectable protein in patient fibroblasts); an α-helix
Similar variants
- ADPRS p.Gln106Ter Pathogenic/Likely pathogenic ★★ same type
- ADPRS p.Ser177Leu Likely pathogenic ★★ same type
- ADPRS p.Thr79Pro Pathogenic/Likely pathogenic ★★ same type
- ADPRS p.Val335Gly Pathogenic/Likely pathogenic ★★ same type
- ADPRS p.Ala94Asp Uncertain significance ★★ ⚠ same type
- ADPRS p.Arg175Trp Uncertain significance ★★ ⚠ same type
- ADPRS p.Pro336Leu Uncertain significance ★★ ⚠ same type
- ADPRS p.Tyr164Cys 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/adprs-p-ser161 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown