ADPRS p.Glu238=
c.714G>A · rs149547220 · VCV3025543
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.231%, mid)
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 4.4 | GERP -1.4, phastCons 1 |
| Overall | ||
| CADD | 7.046 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.231%
Middle Eastern · 14/6,062 alleles
Filtering AF
0.14%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.112%
Overall
0.0135%
218/1,614,142 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.231% | 433 |
| Admixed American | 0.0417% | 2,400 |
| Remaining individualsnot grpmax-eligible | 0.0368% | 2,718 |
| European (non-Finnish) | 0.0131% | 7,662 |
| African / African-American | 0.00267% | 37,522 |
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.Glu238=
- Coding
- c.714G>A
- MANE Select
- NM_017825
- dbSNP
- rs149547220
- Type
- single nucleotide variant
- Location
- chr1:36092434 (GRCh38)
- Gene constraint
- LOEUF 1.155 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.70 · 14 PDB
- Residue 238
- a UniProt-annotated variant site (in condsias; no detectable protein in patient fibroblasts)
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-glu238 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown