RAX2 p.Pro112=
c.336G>A · rs1568400696 · VCV1384931
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00359%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.005 | strongly benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -11 | GERP -3.3 |
| Overall | ||
| CADD | 0.506 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00359%
South Asian · 3/83,598 alleles
Filtering AF
0.000985%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000812%
Overall
0.00157%
24/1,526,922 alleles · very rare
exomes 23/1,374,822 · genomes 1/152,100 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00359% | 27,866 |
| East Asian | 0.00248% | 40,360 |
| Remaining individualsnot grpmax-eligible | 0.00168% | 59,452 |
| European (non-Finnish) | 0.00158% | 63,478 |
| African / African-American | 0.00139% | 72,160 |
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
- RAX2
- Protein
- p.Pro112=
- Coding
- c.336G>A
- MANE Select
- NM_001319074
- dbSNP
- rs1568400696
- Type
- single nucleotide variant
- Location
- chr19:3770840 (GRCh38)
- Gene constraint
- LOEUF 1.525 · pLI 0.05 (gnomAD)
- Structure
- AlphaFold pLDDT 71.72
Similar variants
- RAX2 p.Pro112Leu Uncertain significance ★★ ⚠ same residue
- RAX2 p.Pro112Arg Uncertain significance ★ ⚠ same residue
- RAX2 p.Pro112Ser Uncertain significance ★ ⚠ same residue
- RAX2 p.Pro112Thr Uncertain significance ⚠ same residue
- RAX2 p.Pro112fs Uncertain significance ★★ same residue
- RAX2 p.Pro52Arg Likely pathogenic ★★ same type
- RAX2 c.217-12C>A Uncertain significance ★★ same type
- RAX2 c.*368C>T 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/rax2-p-pro112 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown