RIPK1 p.Ser663=
c.1989C>T · rs2113726996 · VCV1645980
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -0.12 | GERP -2.2 |
| Overall | ||
| CADD | 3.201 | 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
- RIPK1
- Protein
- p.Ser663=
- Coding
- c.1989C>T
- MANE Select
- NM_001354930
- dbSNP
- rs2113726996
- Type
- single nucleotide variant
- Location
- chr6:3113312 (GRCh38)
- Gene constraint
- LOEUF 0.6 · pLI 0.21 (gnomAD)
- Structure
- AlphaFold pLDDT 70.38 · 39 PDB
- Residue 663
- the death domain; an α-helix
Similar variants
- RIPK1 p.Asp324Asn Pathogenic ★★ ⚠ same type
- RIPK1 p.Asp324His Pathogenic ★★ ⚠ same type
- RIPK1 c.460-5C>A Uncertain significance ★★ same type
- RIPK1 p.Ala106Val Uncertain significance ★★ ⚠ same type
- RIPK1 p.Ala160Thr Uncertain significance ★★ ⚠ same type
- RIPK1 p.Ala194Thr Uncertain significance ★★ ⚠ same type
- RIPK1 p.Ala203Thr Uncertain significance ★★ ⚠ same type
- RIPK1 p.Ala220Thr 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/ripk1-p-ser663 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown