ADSS1 p.Leu321=
c.963G>A · rs746480470 · VCV1681987
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00659%, sas)
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 2.7 | GERP -4.2, phastCons 1 |
| Overall | ||
| CADD | 5.066 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00659%
South Asian · 6/91,092 alleles
Filtering AF
0.00286%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00195%
Overall
0.000479%
7/1,460,740 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00659% | 15,182 |
| Admixed American | 0.00167% | 60,028 |
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.Leu321=
- Coding
- c.963G>A
- MANE Select
- NM_152328
- dbSNP
- rs746480470
- Type
- single nucleotide variant
- Location
- chr14:104743081 (GRCh38)
- Gene constraint
- LOEUF 1.245 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.10
Similar variants
- ADSS1 c.949-2A>G Likely pathogenic ★★ same type
- ADSS1 p.Asp261Asn Pathogenic/Likely pathogenic ★★ same type
- ADSS1 p.Gln323Ter Pathogenic/Likely pathogenic ★★ same type
- ADSS1 c.193-4823C>A Uncertain significance ★★ same type
- ADSS1 c.193-4836G>A Uncertain significance ★★ same type
- ADSS1 c.193-4838G>A Uncertain significance ★★ same type
- ADSS1 c.193-4866C>T Uncertain significance ★★ same type
- ADSS1 c.193-4916C>T 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/adss1-p-leu321 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown