RELA p.Gln220=
c.660G>A · VCV4886949
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
autoinflammatory disease, familial, Behcet-like-3
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 0.83 | GERP -2, phastCons 1 |
| Overall | ||
| CADD | 7.076 | 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
- RELA
- Protein
- p.Gln220=
- Coding
- c.660G>A
- MANE Select
- NM_021975
- Type
- single nucleotide variant
- Location
- chr11:65658722 (GRCh38)
- Gene constraint
- LOEUF 0.4 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 73.52 · 88 PDB
- Residue 220
- the rhd domain
Disease context
autoinflammatory disease, familial, Behcet-like-3 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Combined immunodeficiency due to RELA haploinsufficiency (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Childhood
Similar variants
- RELA p.Arg198Ter Pathogenic/Likely pathogenic ★★ same condition
- RELA p.Arg329Ter Pathogenic/Likely pathogenic ★★ same condition
- RELA p.Gln372Ter Pathogenic/Likely pathogenic ★★ same condition
- RELA p.Arg325Gln Uncertain significance ★★ ⚠ same condition
- RELA c.8-10C>T Benign/Likely benign ★★ same condition
- RELA p.Asp291Asn Benign/Likely benign ★★ same condition
- RELA p.Cys206Ter Likely pathogenic ★ same condition
- RELA p.Ser169Ter Likely pathogenic ★ 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/rela-p-gln220 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown