FA2H p.Asp142del
c.426_428del · rs1961980881 · VCV947861
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
Spastic paraplegia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.078 | GERP -0.27, phastCons 0.37 |
Population frequency
dbSNP / gnomAD
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
- FA2H
- Protein
- p.Asp142del
- Coding
- c.426_428del
- MANE Select
- NM_024306
- dbSNP
- rs1961980881
- Type
- Deletion
- Location
- chr16:74727322 (GRCh38)
- Gene constraint
- LOEUF 0.759 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 85.53
Similar variants
- FA2H p.Asp142= Likely benign ★ same residue
- FA2H p.Arg53_Ile58del Pathogenic ★★ same condition
- FA2H p.Gly298fs Pathogenic ★★ same condition
- FA2H p.Thr314fs Pathogenic/Likely pathogenic ★★ same condition
- FA2H p.Tyr170_Ser171delinsTer Pathogenic ★★ same condition
- FA2H p.Ala8fs Pathogenic ★ same condition
- FA2H p.Gln56fs Pathogenic ★ same condition
- FA2H p.Pro274fs 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/fa2h-p-asp142del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown