RIPK4 p.Ser337=
c.1011A>G · rs2146046679 · VCV3032960
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
RIPK4-related disorder
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 -12 | GERP -3.1 |
| Overall | ||
| CADD | 0.073 | 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
- RIPK4
- Protein
- p.Ser337=
- Coding
- c.1011A>G
- MANE Select
- NM_020639
- dbSNP
- rs2146046679
- Type
- single nucleotide variant
- Location
- chr21:41744066 (GRCh38)
- Gene constraint
- LOEUF 0.577 · pLI 0.62 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 75.41
- Residue 337
- the 'disordered' region
Disease context
RIPK4-related disorder
Similar variants
- RIPK4 p.Val272Leu Uncertain significance ★ ⚠ same condition
- RIPK4 p.Ala611= Likely benign same condition
- RIPK4 p.Arg614= Likely benign same condition
- RIPK4 p.Gln769= Likely benign same condition
- RIPK4 p.His240= Likely benign same condition
- RIPK4 p.His547= Likely benign same condition
- RIPK4 p.Ile414= Likely benign same condition
- RIPK4 p.Leu523= Likely benign 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/ripk4-p-ser337 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown