ADA2 p.Phe87=
c.261C>T · VCV3766701
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 4.3 | GERP 0.52, phastCons 1 |
| Overall | ||
| CADD | 8.592 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ADA2
- Protein
- p.Phe87=
- Coding
- c.261C>T
- MANE Select
- NM_001166105 · reported on NM_001282225
- Type
- single nucleotide variant
- Location
- chr22:17209417 (GRCh38)
- Structure
- AlphaFold pLDDT 85.04 · 1 PDB
- Residue 87
- the sant domain; an α-helix
Similar variants
- TADA2A p.Val87Met Uncertain significance ★ ⚠ same residue
- ADA2 c.754-2A>G Likely pathogenic ★★ same type
- ADA2 c.882-2A>G Pathogenic ★★ same type
- ADA2 c.973-2A>G Pathogenic ★★ same type
- ADA2 p.Arg169Gln Pathogenic/Likely pathogenic ★★ ⚠ same type
- ADA2 p.Arg169Trp Pathogenic/Likely pathogenic ★★ same type
- ADA2 p.Arg306Ter Likely pathogenic ★★ same type
- ADA2 p.Arg312Ter Pathogenic ★★ 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/ada2-p-phe87 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown