PAX2 p.Arg225Pro
c.674_675inv · VCV4536048
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.1, phastCons 1 |
| Regional constraint | o/e 0.95 | unconstrained · MANE · 48 kb · p 0.4 · regional, not allelic |
Variant & gene context
- Gene
- PAX2
- Protein
- p.Arg225Pro
- Coding
- c.674_675inv
- MANE Select
- NM_000278
- Type
- Inversion
- Location
- chr10:100806487 (GRCh38)
- Gene constraint
- LOEUF 0.451 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 61.52
Similar variants
- PAX2 p.Arg225Gln Uncertain significance ★★ ⚠ same residue
- PAX2 p.Arg225Trp Uncertain significance ★★ ⚠ same residue
- PAX2 p.Asn266Ser 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/pax2-p-arg225pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown