ADA2 p.Pro155fs
c.464del · VCV4946816
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
ADA2-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.86 | GERP -3 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ADA2
- Protein
- p.Pro155fs
- Coding
- c.464del
- MANE Select
- NM_001282225
- Type
- Deletion
- Location
- chr22:17207149 (GRCh38)
- Structure
- AlphaFold pLDDT 85.04 · 1 PDB
Disease context
ADA2-related disorder
Similar variants
- ADA2 p.Ala221fs Pathogenic/Likely pathogenic ★★ same condition
- ADA2 p.Arg306Ter Likely pathogenic ★★ same condition
- ADA2 p.Gly47Ala Pathogenic ★★ same condition
- ADA2 p.Gly47Val Pathogenic/Likely pathogenic ★★ same condition
- ADA2 p.Thr360Ala Pathogenic ★★ same condition
- ADA2 p.Ile462Thr Uncertain significance ★★ ⚠ same condition
- ADA2 p.Thr492Ala Uncertain significance ★★ ⚠ same condition
- ADA2 p.Ala247fs Likely pathogenic ★ same condition
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-pro155fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown