ADSS1 p.Val441=
c.1323C>A · rs750886513 · VCV3040996
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00833%, amr)
Conditions
1
ADSS1-related disorder
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 1.1 | GERP -4.2, phastCons 1 |
| Overall | ||
| CADD | 8.576 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00833%
Admixed American · 5/60,002 alleles
Filtering AF
0.00323%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00207%
Overall
0.000558%
9/1,613,994 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00833% | 12,000 |
| European (non-Finnish) | 0.000339% | 294,991 |
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
- ADSS1
- Protein
- p.Val441=
- Coding
- c.1323C>A
- MANE Select
- NM_152328
- dbSNP
- rs750886513
- Type
- single nucleotide variant
- Location
- chr14:104746952 (GRCh38)
- Gene constraint
- LOEUF 1.245 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.10
Disease context
ADSS1-related disorder
Similar variants
- ADSS1 p.Asp261Asn Pathogenic/Likely pathogenic ★★ same condition
- ADSS1 p.Ile291Thr Uncertain significance ★★ ⚠ same condition
- ADSS1 p.Val277Met Uncertain significance ★★ ⚠ same condition
- ADSS1 p.Gly99Asp Likely pathogenic ★ same condition
- ADSS1 c.193-4876T>C Likely benign same condition
- ADSS1 c.193-5130G>A Likely benign same condition
- ADSS1 c.*2C>T Likely benign same condition
- ADSS1 p.Lys78= Likely benign same condition
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/adss1-p-val441 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown