RPL35 p.Arg10=
c.30C>G · rs560383159 · VCV1974422
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.153%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.118 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.2 | GERP -3.7, phastCons 0.049 |
| Overall | ||
| CADD | 11.77 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.153%
South Asian · 139/91,082 alleles
Filtering AF
0.132%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.124%
Overall
0.00892%
144/1,613,948 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.153% | 655 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,625 |
| European (non-Finnish) | 8.47e-05% | 1,179,988 |
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
- RPL35
- Protein
- p.Arg10=
- Coding
- c.30C>G
- MANE Select
- NM_007209
- dbSNP
- rs560383159
- Type
- single nucleotide variant
- Location
- chr9:124861529 (GRCh38)
- Gene constraint
- LOEUF 0.391 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 94.73 · 188 PDB
- Residue 10
- a β-strand
Similar variants
- RPL35 p.Arg10Cys Uncertain significance ★ ⚠ same residue
- RPL35 p.Ala120Thr Uncertain significance ★★ ⚠ same type
- RPL35 p.Arg109Gln Uncertain significance ★★ ⚠ same type
- RPL35 p.Arg109Leu Uncertain significance ★★ ⚠ same type
- RPL35 p.Arg112Trp Uncertain significance ★★ ⚠ same type
- RPL35 p.Arg117Gln Uncertain significance ★★ ⚠ same type
- RPL35 p.Arg94Trp Uncertain significance ★★ ⚠ same type
- RPL35 p.His98Gln 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/rpl35-p-arg10 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown