RPL18 p.Pro142=
c.426T>A · rs2513853751 · VCV2796154
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00017%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.075 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
| Constraint at this position | ||
| Conservation | phyloP -0.2 | GERP -4.6, phastCons 0.018 |
| Overall | ||
| CADD | 6.919 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00017%
European (non-Finnish) · 2/1,179,934 alleles
Filtering AF
2.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000124%
2/1,613,982 alleles · very rare
exomes 2/1,461,744 · genomes 0/152,238 · 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
- RPL18
- Protein
- p.Pro142=
- Coding
- c.426T>A
- MANE Select
- NM_000979
- dbSNP
- rs2513853751
- Type
- single nucleotide variant
- Location
- chr19:48615942 (GRCh38)
- Gene constraint
- LOEUF 0.365 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 95.51 · 185 PDB
Similar variants
- RPL18 p.Arg108Gln Uncertain significance ★★ ⚠ same type
- RPL18 p.Arg108Trp Uncertain significance ★★ same type
- RPL18 p.Arg110His Uncertain significance ★★ ⚠ same type
- RPL18 p.Arg6Cys Uncertain significance ★★ ⚠ same type
- RPL18 p.Arg6His Uncertain significance ★★ ⚠ same type
- RPL18 p.Leu61Val Uncertain significance ★★ ⚠ same type
- RPL18 p.Pro159Leu Uncertain significance ★★ ⚠ same type
- RPL18 p.Thr79Met 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/rpl18-p-pro142 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown