PRPS1 p.Ala87=
c.261A>C · rs755850703 · VCV1089572
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00217%, amr)
Conditions
1
Charcot-Marie-Tooth Neuropathy X
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 -0.091 | GERP 0.03, phastCons 0.01 |
| Overall | ||
| CADD | 9.694 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00217%
Admixed American · 1/46,004 alleles
Overall
9.11e-05%
1/1,098,216 alleles · very rare
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
- PRPS1
- Protein
- p.Ala87=
- Coding
- c.261A>C
- MANE Select
- NM_002764
- dbSNP
- rs755850703
- Type
- single nucleotide variant
- Location
- chrX:107639433 (GRCh38)
- Structure
- AlphaFold pLDDT 94.77 · 27 PDB
- Residue 87
- a UniProt-annotated variant site (in dfnx1); a β-strand
Similar variants
- PRPS1 p.Ala87Thr Uncertain significance ★ ⚠ same residue
- PRPS1 p.Ala87Val Uncertain significance ★ ⚠ same residue
- PRPS1 p.Ile107Val Likely pathogenic ★★ same condition
- PRPS1 p.Met115Thr Pathogenic/Likely pathogenic ★★ same condition
- PRPS1 p.Ser169Leu Pathogenic ★★ same condition
- PRPS1 p.Ala216Thr Uncertain significance ★★ ⚠ same condition
- PRPS1 p.Arg204Cys Uncertain significance ★★ ⚠ same condition
- PRPS1 p.Arg204His Uncertain significance ★★ 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/prps1-p-ala87 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown