RPL19 p.Arg97=
c.291G>A · rs2509312800 · VCV2886257
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 6.2e-05%)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 3.3 | GERP 1, phastCons 1 |
| Overall | ||
| CADD | 11.98 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
6.2e-05%
Overall
6.2e-05%
1/1,614,088 alleles · very rare
exomes 1/1,461,840 · genomes 0/152,248 · 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
- RPL19
- Protein
- p.Arg97=
- Coding
- c.291G>A
- MANE Select
- NM_000981
- dbSNP
- rs2509312800
- Type
- single nucleotide variant
- Location
- chr17:39203044 (GRCh38)
- Gene constraint
- LOEUF 0.277 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 94.75 · 179 PDB
- Residue 97
- an α-helix
Similar variants
- RPL19 p.Arg97Lys Uncertain significance ★ ⚠ same residue
- RPL19 c.112+16C>G Likely benign ★★ same type
- RPL19 c.113-19G>A Likely benign ★★ same type
- RPL19 c.236-11C>T Benign/Likely benign ★★ same type
- RPL19 c.5+19C>T Likely benign ★★ same type
- RPL19 p.Ala179= Likely benign ★★ same type
- RPL19 p.Arg42= Likely benign ★★ same type
- RPL19 p.Arg64= 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/rpl19-p-arg97 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown