RDX p.Ala126Pro
c.376G>C · rs200090161 · VCV2523963
Computational evidence
| Protein change | ||
| AlphaMissense | 0.9938 | likely pathogenic |
|---|---|---|
| REVEL | 0.953 | strongly pathogenic-leaning |
| SaProt | LLR -14.68 | damaging |
| ⇒ AlphaMissense, REVEL and SaProt all call this damaging. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 2.6, phastCons 1 |
| Regional constraint | o/e 0.87 | unconstrained · MANE · 48 kb · p 0.00062 · regional, not allelic |
| Overall | ||
| CADD | 29.2 | PHRED · no single calibrated threshold — expert panels disagree |
ClinVar classifies this uncertain; the computational predictors unanimously lean damaging — a triage signal, not a reclassification
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.014% | 7,150 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,830 |
| African / African-American | 0.00133% | 75,008 |
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
- RDX
- Protein
- p.Ala126Pro
- Coding
- c.376G>C
- MANE Select
- NM_002906
- dbSNP
- rs200090161
- Type
- single nucleotide variant
- Location
- chr11:110264051 (GRCh38)
- Gene constraint
- LOEUF 0.542 · pLI 0.66 (gnomAD)
- Structure
- AlphaFold pLDDT 86.98 · 2 PDB
- Residue 126
- the ferm domain
Similar variants
- RDX p.Ala442Thr Uncertain significance ★★ ⚠ same condition
- RDX p.Arg156Cys Uncertain significance ★★ ⚠ same condition
- RDX p.Arg342His Uncertain significance ★★ ⚠ same condition
- RDX p.Arg523His Uncertain significance ★★ ⚠ same condition
- RDX p.Asn138Ser Uncertain significance ★★ ⚠ same condition
- RDX p.Asn277Ser Uncertain significance ★★ ⚠ same condition
- RDX p.Glu385Ala Uncertain significance ★★ ⚠ same condition
- RDX p.Glu499Asp Uncertain significance ★★ ⚠ same condition
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/rdx-p-ala126pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown