ADGRB1 p.Pro575=
c.1725C>T · rs200224393 · VCV719450
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.601%, amr)
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 -20 | GERP -3.1 |
| Overall | ||
| CADD | 0.033 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.601%
Admixed American · 263/43,780 alleles
Filtering AF
0.552%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.547%
Overall
0.47%
7,232/1,539,722 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.601% | 166 |
| European (non-Finnish) | 0.564% | 177 |
| Remaining individualsnot grpmax-eligible | 0.488% | 205 |
| African / African-American | 0.106% | 946 |
| Finnishnot grpmax-eligible | 0.101% | 991 |
| Middle Eastern | 0.0962% | 1,040 |
| South Asian | 0.066% | 1,514 |
| East Asian | 0.0118% | 8,482 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00734% | 13,615 |
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
- ADGRB1
- Protein
- p.Pro575=
- Coding
- c.1725C>T
- MANE Select
- NM_001702
- dbSNP
- rs200224393
- Type
- single nucleotide variant
- Location
- chr8:142479486 (GRCh38)
- Gene constraint
- LOEUF 0.372 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 62.83
- Residue 575
- the tsp type-1 5 domain
Similar variants
- ADGRB1 c.2130+15C>G Benign ★★ same type
- ADGRB1 p.Ala1507Val Benign ★★ same type
- ADGRB1 p.Pro1295= Benign ★★ same type
- ADGRB1 p.Ser480= Benign ★★ same type
- ADGRB1 p.Thr1274= Benign ★★ same type
- ADGRB1 p.Ala131Thr Uncertain significance ★ ⚠ same type
- ADGRB1 p.Ala1406Gly Uncertain significance ★ ⚠ same type
- ADGRB1 p.Ala1409Thr 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/adgrb1-p-pro575 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown