ADSS1 p.Arg348fs
c.1044del · rs2542040039 · VCV2017626
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 10 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.4 | GERP -2.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- ADSS1
- Protein
- p.Arg348fs
- Coding
- c.1044del
- MANE Select
- NM_152328
- dbSNP
- rs2542040039
- Type
- Deletion
- Location
- chr14:104743162 (GRCh38)
- Gene constraint
- LOEUF 1.245 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.10
Similar variants
- ADSS1 c.193-2del Likely pathogenic ★★ same type
- ADSS1 p.Ile307fs Pathogenic ★★ same type
- ADSS1 p.Lys249fs Pathogenic/Likely pathogenic ★★ same type
- ADSS1 c.193-5138_193-5113del Uncertain significance ★★ same type
- ADSS1 c.193-5058del Pathogenic ★ same type
- ADSS1 c.193-5103del Likely pathogenic ★ same type
- ADSS1 c.193-5110del Pathogenic ★ same type
- ADSS1 c.948_948+5del 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/adss1-p-arg348fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown