RELT p.Ala267=
c.801G>A · rs141705063 · VCV715513
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.88%, eas)
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 -0.69 | GERP -3.8 |
| Overall | ||
| CADD | 1.742 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.88%
East Asian · 1,737/44,808 alleles
Filtering AF
3.72%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.66%
Overall
0.131%
2,110/1,608,968 alleles · low-frequency
exomes 1,809/1,456,734 · genomes 301/152,234 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 3.88% | 26 |
| Remaining individualsnot grpmax-eligible | 0.391% | 256 |
| South Asian | 0.0681% | 1,468 |
| Middle Eastern | 0.033% | 3,027 |
| African / African-American | 0.0253% | 3,945 |
| Admixed American | 0.0183% | 5,451 |
| European (non-Finnish) | 0.00297% | 33,661 |
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.Ala267=
- Coding
- c.801G>A
- MANE Select
- NM_152222
- dbSNP
- rs141705063
- Type
- single nucleotide variant
- Location
- chr11:73394489 (GRCh38)
- Gene constraint
- LOEUF 0.955 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 63.38
Similar variants
- RELT p.Ala267Val Uncertain significance ★ ⚠ same residue
- RELT p.Ala160= Likely benign ★★ same type
- RELT p.Asp87Val Likely pathogenic ★ same type
- RELT p.Leu174Arg Likely pathogenic ★ same type
- RELT c.287+1G>T Uncertain significance ★ same type
- RELT p.Ala136Val Uncertain significance ★ ⚠ same type
- RELT p.Ala164Thr Uncertain significance ★ ⚠ same type
- RELT p.Ala164Val 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/relt-p-ala267 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown