RAD21 p.Pro91=
c.273A>G · rs1812624997 · VCV982724
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Cornelia de Lange syndrome 4
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 5.1 | GERP 2.7, phastCons 1 |
| Overall | ||
| CADD | 20.3 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- RAD21
- Protein
- p.Pro91=
- Coding
- c.273A>G
- MANE Select
- NM_006265
- dbSNP
- rs1812624997
- Type
- single nucleotide variant
- Location
- chr8:116863131 (GRCh38)
- Gene constraint
- LOEUF 0.341 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 61.49 · 37 PDB
Similar variants
- RAD21 c.144+1G>A Pathogenic ★★ same condition
- RAD21 p.Arg478Ter Pathogenic/Likely pathogenic ★★ same condition
- RAD21 p.Arg65Ter Pathogenic/Likely pathogenic ★★ same condition
- RAD21 p.Gln436Ter Pathogenic/Likely pathogenic ★★ same condition
- RAD21 p.Gly408Ter Pathogenic ★★ same condition
- RAD21 p.Ala410Thr Uncertain significance ★★ ⚠ same condition
- RAD21 p.Arg404Lys Uncertain significance ★★ ⚠ same condition
- RAD21 p.Arg569His 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/rad21-p-pro91 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown