ADARB1 p.Lys281=
c.843G>A · rs61735851 · VCV2652786
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.724%, nfe)
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 1.7 | GERP -0.4, phastCons 1 |
| Overall | ||
| CADD | 6.621 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.724%
European (non-Finnish) · 8,544/1,180,028 alleles
Filtering AF
0.711%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.706%
Overall
0.594%
9,586/1,614,224 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.724% | 138 |
| Remaining individualsnot grpmax-eligible | 0.627% | 159 |
| South Asian | 0.427% | 234 |
| Admixed American | 0.192% | 522 |
| Middle Eastern | 0.181% | 551 |
| African / African-American | 0.116% | 863 |
| Finnishnot grpmax-eligible | 0.0578% | 1,731 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0372% | 2,692 |
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.Lys281=
- Coding
- c.843G>A
- MANE Select
- NM_001112
- dbSNP
- rs61735851
- Type
- single nucleotide variant
- Location
- chr21:45176544 (GRCh38)
- Gene constraint
- LOEUF 0.323 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 77.12 · 13 PDB
- Residue 281
- the drbm 2 domain; 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.Lys654= Benign ★★ same type
- ADARB1 p.Phe697= Benign ★★ same type
- ADARB1 p.Pro103= Benign ★★ same type
- ADARB1 p.Thr358= 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/adarb1-p-lys281 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown