FAS p.Asp78fs
c.232del · rs606231361 · VCV16497
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 9 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -5.5 | GERP -2.2 |
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
- FAS
- Protein
- p.Asp78fs
- Coding
- c.232del
- MANE Select
- NM_000043
- dbSNP
- rs606231361
- Type
- Deletion
- Location
- chr10:89007732 (GRCh38)
- Gene constraint
- LOEUF 0.372 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 78.21 · 7 PDB
- Residue 78
- an α-helix
Similar variants
- FAS c.569-2A>C Pathogenic same condition
- FAS c.651+2T>A Pathogenic same condition
- FAS p.Ala25Thr Pathogenic ⚠ same condition
- FAS p.Asp260Tyr Pathogenic same condition
- FAS p.Glu330fs Pathogenic same condition
- FAS p.Gly247Ala Pathogenic ⚠ same condition
- FAS p.Lys231fs Pathogenic same condition
- FAS p.Thr241Pro Pathogenic ⚠ 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/fas-p-asp78fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown