EFL1 p.Asp284=
c.852T>C · rs2505496967 · VCV3032531
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,605,964)
Conditions
1
EFL1-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · A>C here scores Δ0.68 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.21 | phastCons 0.36 |
| Overall | ||
| CADD | 5.494 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,605,964). 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
- EFL1
- Protein
- p.Asp284=
- Coding
- c.852T>C
- MANE Select
- NM_024580
- dbSNP
- rs2505496967
- Type
- single nucleotide variant
- Location
- chr15:82230851 (GRCh38)
- Gene constraint
- LOEUF 0.718 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 74.72 · 2 PDB
Disease context
EFL1-related disorder
Similar variants
- EFL1 p.Ala175= Likely benign same condition
- EFL1 c.1444+3A>C Uncertain significance ★★ same type
- EFL1 c.244+2T>G Uncertain significance ★★ same type
- EFL1 p.Ala755Thr Uncertain significance ★★ ⚠ same type
- EFL1 p.Arg108His Uncertain significance ★★ ⚠ same type
- EFL1 p.Arg1097Trp Uncertain significance ★★ ⚠ same type
- EFL1 p.Arg330Trp Uncertain significance ★★ ⚠ same type
- EFL1 p.Arg444His 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/efl1-p-asp284 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown