RELB p.Pro314=
c.942G>A · rs777844964 · VCV2163457
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00569%, sas)
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 -14 | GERP -4.3 |
| Overall | ||
| CADD | 0.176 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00569%
South Asian · 5/87,872 alleles
Filtering AF
0.00216%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00141%
Overall
0.00163%
26/1,598,558 alleles · very rare
exomes 22/1,446,384 · genomes 4/152,174 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00569% | 17,574 |
| African / African-American | 0.00402% | 24,861 |
| Admixed American | 0.00174% | 57,476 |
| Remaining individualsnot grpmax-eligible | 0.00161% | 61,972 |
| European (non-Finnish) | 0.00136% | 73,328 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- RELB
- Protein
- p.Pro314=
- Coding
- c.942G>A
- MANE Select
- NM_006509
- dbSNP
- rs777844964
- Type
- single nucleotide variant
- Location
- chr19:45028943 (GRCh38)
- Gene constraint
- LOEUF 0.512 · pLI 0.97 (gnomAD)
- Structure
- AlphaFold pLDDT 70.42 · 1 PDB
- Residue 314
- the rhd domain
Similar variants
- RELB p.Pro314Gln Uncertain significance ★ ⚠ same residue
- RELB p.Pro314Leu Uncertain significance ★ ⚠ same residue
- RELB p.Pro314fs Uncertain significance ★ same residue
- RELB p.Ala541Asp Uncertain significance ★★ ⚠ same type
- RELB p.Ala565Val Uncertain significance ★★ ⚠ same type
- RELB p.Arg176Gln Uncertain significance ★★ ⚠ same type
- RELB p.Arg211Gln Uncertain significance ★★ ⚠ same type
- RELB p.Arg213Gln 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/relb-p-pro314 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown