RPS29 p.Arg22=
c.66T>C · rs775327285 · VCV2031161
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -0.19 | GERP -3.8, phastCons 0.069 |
| Overall | ||
| CADD | 7.441 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- RPS29
- Protein
- p.Arg22=
- Coding
- c.66T>C
- MANE Select
- NM_001032
- dbSNP
- rs775327285
- Type
- single nucleotide variant
- Location
- chr14:49586046 (GRCh38)
- Gene constraint
- LOEUF 0.308 · pLI 0.98 (gnomAD)
- Structure
- AlphaFold pLDDT 93.68 · 195 PDB
- Residue 22
- a turn
Similar variants
- RPS29 p.Arg22Ser Uncertain significance ★ ⚠ same residue
- RPS29 p.Ile50Thr Likely pathogenic ★★ same type
- RPS29 c.63-6T>G Uncertain significance ★★ same type
- RPS29 p.Gln41Arg Uncertain significance ★★ ⚠ same type
- RPS29 c.163-57G>A Benign ★★ same type
- RPS29 c.54-496G>C Likely benign ★★ same type
- RPS29 c.62+14T>C Likely benign ★★ same type
- RPS29 c.63-14C>G Likely 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/rps29-p-arg22 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown