PPA2 p.Arg9Cys
c.25_27delinsTGT · rs2110340203 · VCV1193147
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1 | GERP 0.82, phastCons 0.097 |
| Regional constraint | o/e 1.05 | unconstrained · MANE · 104 kb · p 0.35 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- PPA2
- Protein
- p.Arg9Cys
- Coding
- c.25_27delinsTGT
- MANE Select
- NM_176869
- dbSNP
- rs2110340203
- Type
- Indel
- Location
- chr4:105474024 (GRCh38)
- Gene constraint
- LOEUF 1.324 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.39
Similar variants
- PPA2 p.Arg9Leu Uncertain significance ★★ ⚠ same residue
- PPA2 p.Arg9= Benign/Likely benign ★★ same residue
- PPA2 c.656-9_656-8delinsAT Uncertain significance ★ same type
- PPA2 p.Lys282_Cys283delinsAsnSer 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/ppa2-p-arg9cys (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown