RELA p.Pro144fs
c.431del · VCV3722991
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 6 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.97 | GERP -4.8, phastCons 0.7 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- RELA
- Protein
- p.Pro144fs
- Coding
- c.431del
- MANE Select
- NM_021975
- Type
- Deletion
- Location
- chr11:65659794 (GRCh38)
- Gene constraint
- LOEUF 0.4 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 73.52 · 88 PDB
- Residue 144
- the rhd domain
Similar variants
- RELA p.Pro144Thr Uncertain significance ★ ⚠ same residue
- RELA p.Gln389fs Pathogenic/Likely pathogenic ★★ same type
- RELA p.Ala11fs Pathogenic ★ same type
- RELA p.Ala345fs Likely pathogenic ★ same type
- RELA p.Gly432fs Pathogenic ★ same type
- RELA p.Ile183_Phe184insTer Pathogenic ★ same type
- RELA p.Leu7fs Pathogenic ★ same type
- RELA p.Met270fs Pathogenic ★ 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/rela-p-pro144fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown