ADSS1 p.Pro247=
c.741C>A · rs150115019 · VCV1681964
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00167%, amr)
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 -6.2 | GERP -3.8 |
| Overall | ||
| CADD | 3.39 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00167%
Admixed American · 1/59,770 alleles
Filtering AF
0.000183%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00012%
Overall
0.000548%
8/1,459,900 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00167% | 59,770 |
| African / African-American | 0.00133% | 75,018 |
| European (non-Finnish) | 0.000509% | 196,519 |
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.Pro247=
- Coding
- c.741C>A
- MANE Select
- NM_152328
- dbSNP
- rs150115019
- Type
- single nucleotide variant
- Location
- chr14:104741191 (GRCh38)
- Gene constraint
- LOEUF 1.245 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.10
Similar variants
- ADSS1 p.Pro247Arg Uncertain significance ★★ ⚠ same residue
- ADSS1 p.Pro247His Uncertain significance ★★ ⚠ same residue
- ADSS1 p.Pro247Leu Uncertain significance ★ ⚠ same residue
- 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
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-pro247 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown