RRAS2 p.Pro184=
c.552T>C · rs11023174 · VCV2053260
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.31%, eas)
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 5.4 | GERP -0.54, phastCons 1 |
| Overall | ||
| CADD | 12.21 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.31%
East Asian · 587/44,866 alleles
Filtering AF
1.22%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.19%
Overall
0.0429%
692/1,612,326 alleles · low-frequency
exomes 573/1,460,006 · genomes 119/152,320 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 1.31% | 76 |
| Remaining individualsnot grpmax-eligible | 0.112% | 892 |
| South Asian | 0.0308% | 3,252 |
| Admixed American | 0.00333% | 30,011 |
| European (non-Finnish) | 0.000424% | 235,696 |
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.Pro184=
- Coding
- c.552T>C
- MANE Select
- NM_012250
- dbSNP
- rs11023174
- Type
- single nucleotide variant
- Location
- chr11:14279400 (GRCh38)
- Gene constraint
- LOEUF 1.246 · pLI 0.03 (gnomAD)
- Structure
- AlphaFold pLDDT 87.14 · 3 PDB
Similar variants
- 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
- RRAS2 p.Thr41Met 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-pro184 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown