RPS20 p.Val35=
c.105G>A · rs748996829 · VCV1604878
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00333%, 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 -0.59 | GERP -0.82, phastCons 0.018 |
| Overall | ||
| CADD | 11.14 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00333%
Admixed American · 2/60,028 alleles
Filtering AF
0.000553%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000207%
Overall
0.000434%
7/1,614,002 alleles · very rare
exomes 7/1,461,650 · genomes 0/152,352 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00333% | 30,014 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,504 |
| European (non-Finnish) | 0.000339% | 294,962 |
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
- RPS20
- Protein
- p.Val35=
- Coding
- c.105G>A
- MANE Select
- NM_001023
- dbSNP
- rs748996829
- Type
- single nucleotide variant
- Location
- chr8:56073767 (GRCh38)
- Gene constraint
- LOEUF 0.481 · pLI 0.97 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 85.86 · 194 PDB
- Residue 35
- an α-helix
Similar variants
- RPS20 p.Val35Ala Uncertain significance ★★ ⚠ same residue
- RPS20 c.103+5G>A Uncertain significance ★★ same type
- RPS20 c.3+5G>A Uncertain significance ★★ same type
- RPS20 c.4-4A>G Uncertain significance ★★ same type
- RPS20 c.-3G>T Uncertain significance ★★ same type
- RPS20 p.Ala119Gly Uncertain significance ★★ ⚠ same type
- RPS20 p.Ala16Thr Uncertain significance ★★ ⚠ same type
- RPS20 p.Ala16Val 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/rps20-p-val35 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown