RRAS2 p.Arg173=
c.519G>A · VCV3389571
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0149%, afr)
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 -0.49 | GERP -1.4, phastCons 0.029 |
| Overall | ||
| CADD | 7.871 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0149%
African / African-American · 11/73,964 alleles
Filtering AF
0.00826%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00641%
Overall
0.000751%
12/1,597,478 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0149% | 6,724 |
| Remaining individualsnot grpmax-eligible | 0.00161% | 61,966 |
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
- RRAS2
- Protein
- p.Arg173=
- Coding
- c.519G>A
- MANE Select
- NM_012250
- Type
- single nucleotide variant
- Location
- chr11:14281610 (GRCh38)
- Gene constraint
- LOEUF 1.246 · pLI 0.03 (gnomAD)
- Structure
- AlphaFold pLDDT 87.14 · 3 PDB
- Residue 173
- an α-helix
Similar variants
- RRAS2 p.Arg173Trp Uncertain significance ★ ⚠ same residue
- RRAS2 p.Ala70Thr Likely pathogenic ★★★ same type
- RRAS2 p.Gln72Leu Pathogenic ★★★ same type
- RRAS2 c.409-16A>T Benign ★★★ same type
- RRAS2 p.Arg147Gln Uncertain significance ★★ ⚠ same type
- RRAS2 p.Arg191Trp Uncertain significance ★★ ⚠ same type
- RRAS2 p.Lys150Thr Uncertain significance ★★ ⚠ same type
- RRAS2 p.Pro45Ala 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/rras2-p-arg173 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown