ELF4 p.Val547=
c.1641T>C · VCV4688973
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.84 | GERP -1.1, phastCons 1 |
| Overall | ||
| CADD | 4.607 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ELF4
- Protein
- p.Val547=
- Coding
- c.1641T>C
- MANE Select
- NM_001421
- Type
- single nucleotide variant
- Location
- chrX:130067072 (GRCh38)
- Structure
- AlphaFold pLDDT 49.77
Similar variants
- ELF4 p.Gly206Asp Uncertain significance ★★ ⚠ same type
- ELF4 p.Ser413Leu Uncertain significance ★★ ⚠ same type
- ELF4 p.Ala147Val Benign/Likely benign ★★ same type
- ELF4 p.Arg604Cys Benign ★★ same type
- ELF4 p.Ser369= Benign ★★ same type
- ELF4 p.Thr503= Benign ★★ same type
- ELF4 p.Arg185Ter Likely pathogenic ★ same type
- ELF4 p.Arg234Ter Pathogenic ★ 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/elf4-p-val547 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown