RAD21 p.Pro500=
c.1500A>G · rs2537287842 · VCV2750263
Likely benign
Single submitter
Classification
Likely benign
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 0.6 | GERP -4.5, phastCons 0.99 |
| Overall | ||
| CADD | 8.438 | 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.Pro500=
- Coding
- c.1500A>G
- MANE Select
- NM_006265
- dbSNP
- rs2537287842
- Type
- single nucleotide variant
- Location
- chr8:116850738 (GRCh38)
- Gene constraint
- LOEUF 0.341 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 61.49 · 37 PDB
- Residue 500
- a UniProt-annotated variant site (in cdls4)
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-pro500 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown