RIPK2 p.Asn100=
c.300T>C · rs200736854 · VCV766034
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00374%, 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 1.2 | GERP 1.4, phastCons 1 |
| Overall | ||
| CADD | 7.578 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00374%
European (non-Finnish) · 42/1,123,388 alleles
Filtering AF
0.0028%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00248%
Overall
0.00284%
43/1,514,652 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00374% | 26,747 |
| Remaining individualsnot grpmax-eligible | 0.00173% | 57,820 |
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
- RIPK2
- Protein
- p.Asn100=
- Coding
- c.300T>C
- MANE Select
- NM_003821
- dbSNP
- rs200736854
- Type
- single nucleotide variant
- Location
- chr8:89762955 (GRCh38)
- Gene constraint
- LOEUF 0.532 · pLI 0.95 (gnomAD)
- Structure
- AlphaFold pLDDT 76.99 · 33 PDB
- Residue 100
- the protein kinase domain
Similar variants
- RIPK2 p.Leu268Val Benign ★★ same type
- RIPK2 p.Ser204= Benign ★★ same type
- RIPK2 p.Ala263Thr Uncertain significance ★ ⚠ same type
- RIPK2 p.Ala405Val Uncertain significance ★ ⚠ same type
- RIPK2 p.Arg123Cys Uncertain significance ★ ⚠ same type
- RIPK2 p.Arg171His Uncertain significance ★ ⚠ same type
- RIPK2 p.Arg264Cys Uncertain significance ★ ⚠ same type
- RIPK2 p.Arg430His 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/ripk2-p-asn100 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown