RIPK4 p.Ile414=
c.1242C>T · rs145132650 · VCV3050876
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.136%, afr)
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 -0.78 | GERP -4 |
| Overall | ||
| CADD | 4.368 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.136%
African / African-American · 102/74,956 alleles
Filtering AF
0.115%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.107%
Overall
0.00783%
126/1,608,182 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.136% | 735 |
| Admixed American | 0.0251% | 3,986 |
| Remaining individualsnot grpmax-eligible | 0.00643% | 15,548 |
| South Asian | 0.00221% | 45,322 |
| European (non-Finnish) | 0.000255% | 392,075 |
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
- RIPK4
- Protein
- p.Ile414=
- Coding
- c.1242C>T
- MANE Select
- NM_020639
- dbSNP
- rs145132650
- Type
- single nucleotide variant
- Location
- chr21:41741951 (GRCh38)
- Gene constraint
- LOEUF 0.577 · pLI 0.62 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 75.41
- Residue 414
- 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.Leu523= Likely benign same condition
- RIPK4 p.Ser337= 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-ile414 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown