FA2H p.Ser244fs
c.729dup · VCV4931244
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
FA2H-related disorder
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 5 of 7 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.83 | GERP -1.4, phastCons 0.001 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FA2H
- Protein
- p.Ser244fs
- Coding
- c.729dup
- MANE Select
- NM_024306
- Type
- Duplication
- Location
- chr16:74719044 (GRCh38)
- Gene constraint
- LOEUF 0.759 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 85.53
- Residue 244
- the fatty acid hydroxylase domain
Disease context
FA2H-related disorder
Similar variants
- FA2H p.Met220fs Likely pathogenic ★ same condition
- FA2H p.Ser244= Likely benign ★ same residue
- FA2H p.Pro148Leu Pathogenic/Likely pathogenic ★★ same condition
- FA2H p.Thr207Met Pathogenic/Likely pathogenic ★★ ⚠ same condition
- FA2H p.Val124Ala Likely pathogenic ★ same condition
- FA2H p.Arg154Leu Conflicting classifications of pathogenicity ★ ⚠ same condition
- FAAH p.Val96fs Uncertain significance same condition
- FA2H c.-1C>A 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/fa2h-p-ser244fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown