ADARB1 p.Asp325=
c.975C>T · VCV4684440
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.64%, afr)
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 -8.3 | GERP -3.7 |
| Overall | ||
| CADD | 2.309 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.64%
African / African-American · 1,227/75,032 alleles
Filtering AF
1.56%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.53%
Overall
0.0879%
1,418/1,613,850 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.64% | 61 |
| Middle Eastern | 0.198% | 505 |
| Remaining individualsnot grpmax-eligible | 0.106% | 947 |
| Admixed American | 0.102% | 984 |
| South Asian | 0.0286% | 3,501 |
| East Asian | 0.00223% | 44,874 |
| European (non-Finnish) | 0.00212% | 47,193 |
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
- ADARB1
- Protein
- p.Asp325=
- Coding
- c.975C>T
- MANE Select
- NM_001112
- Type
- single nucleotide variant
- Location
- chr21:45180341 (GRCh38)
- Gene constraint
- LOEUF 0.323 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 77.12 · 13 PDB
- Residue 325
- an α-helix
Similar variants
- ADARB1 c.1397-354A>G Uncertain significance ★★ ⚠ same type
- ADARB1 p.Gly553Arg Uncertain significance ★★ ⚠ same type
- ADARB1 p.Pro345Leu Uncertain significance ★★ ⚠ same type
- ADARB1 p.Asn162= Likely benign ★★ same type
- ADARB1 p.Lys281= Benign/Likely benign ★★ same type
- ADARB1 p.Lys654= Benign ★★ same type
- ADARB1 p.Phe697= Benign ★★ same type
- ADARB1 p.Pro103= 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/adarb1-p-asp325 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown