RELT p.Val367=
c.1101G>A · rs34304845 · VCV3059063
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 22.6%, afr) — too common for a highly-penetrant pathogenic allele
Conditions
1
RELT-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.64 | donor gain · deltas |
|---|---|---|
| Pangolin | Δ0.57 | gain · loss 0.00 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 3.3 | GERP 2, phastCons 1 |
| Overall | ||
| CADD | 18.41 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
22.6%
African / African-American · 16,916/74,990 alleles
Filtering AF
22.3%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 22.2%
Overall
1.88%
30,309/1,613,642 alleles · common
exomes 19,896/1,461,374 · genomes 10,413/152,268 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 22.6% | 4 |
| Middle Eastern | 4.82% | 21 |
| Ashkenazi Jewishnot grpmax-eligible | 3.74% | 27 |
| South Asian | 3.08% | 32 |
| Remaining individualsnot grpmax-eligible | 2.35% | 43 |
| Admixed American | 1.76% | 57 |
| European (non-Finnish) | 0.553% | 181 |
| Finnishnot grpmax-eligible | 0.223% | 448 |
| East Asian | 0.00223% | 44,888 |
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
- RELT
- Protein
- p.Val367=
- Coding
- c.1101G>A
- MANE Select
- NM_152222
- dbSNP
- rs34304845
- Type
- single nucleotide variant
- Location
- chr11:73395141 (GRCh38)
- Gene constraint
- LOEUF 0.955 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 63.38
Disease context
RELT-related disorder
Similar variants
- RELT p.Val367Glu Benign same residue
- RELT p.Ala314= Likely benign same condition
- RELT p.Arg338Pro Likely benign same condition
- RELT p.Met363Val Benign same condition
- RELT p.Pro201= Benign same condition
- RELT p.Thr256Met Benign same condition
- RELT p.Thr360= Benign same condition
- RELT p.Ala160= Likely benign ★★ 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/relt-p-val367 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown