MRPS23 p.Arg98=
c.294G>A · VCV3660015
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0184%, 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 1.8 | GERP 0.91, phastCons 1 |
| Overall | ||
| CADD | 18.94 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0184%
Admixed American · 11/59,934 alleles
Filtering AF
0.0102%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00786%
Overall
0.000682%
11/1,613,618 alleles · ultra-rare
exomes 3/1,461,410 · genomes 8/152,208 · joint denominator
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
- MRPS23
- Protein
- p.Arg98=
- Coding
- c.294G>A
- MANE Select
- NM_016070
- Type
- single nucleotide variant
- Location
- chr17:57841052 (GRCh38)
- Gene constraint
- LOEUF 1.117 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.21 · 85 PDB
- Residue 98
- an α-helix
Similar variants
- MRPS23 p.Arg98Trp Uncertain significance ★★ ⚠ same residue
- MRPS23 p.Arg42Lys Uncertain significance ★★ ⚠ same type
- MRPS23 p.Ser14Phe Uncertain significance ★★ same type
- MRPS23 c.215+12G>C Benign ★★ same type
- MRPS23 p.Arg21= Likely benign ★★ same type
- MRPS23 p.Gly136= Benign ★★ same type
- MRPS23 p.His142= Benign/Likely benign ★★ same type
- MRPS23 p.Pro59His Benign ★★ 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/mrps23-p-arg98 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown