CERS3 p.Phe221fs
c.662del · rs2549116288 · VCV1996888
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 9 of 12 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.9 | GERP 0.72, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- CERS3
- Protein
- p.Phe221fs
- Coding
- c.662del
- MANE Select
- NM_001378789
- dbSNP
- rs2549116288
- Type
- Deletion
- Location
- chr15:100473000 (GRCh38)
- Gene constraint
- LOEUF 1.14 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 87.52
- Residue 221
- the tlc domain
Similar variants
- CERS3 p.Asn122fs Pathogenic ★ same type
- CERS3 p.Leu16fs Likely pathogenic ★ same type
- CERS3 p.Met292fs Likely pathogenic ★ same type
- CERS3 p.Tyr189fs Likely pathogenic ★ same type
- CERS3 c.407+309del Benign ★ same type
- CERS3 c.465+221_465+222del Benign ★ same type
- CERS3 c.999+21del Benign ★ 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/cers3-p-phe221fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown