BDNF p.Ala24=
c.72A>G · rs2538965118 · VCV2837548
Uncertain significance
Single submitter
Classification
Uncertain significance
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 -1.6 | GERP -5.8 |
| Overall | ||
| CADD | 0.89 | 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
- BDNF
- Protein
- p.Ala24=
- Coding
- c.72A>G
- MANE Select
- NM_001709
- dbSNP
- rs2538965118
- Type
- single nucleotide variant
- Location
- chr11:27658493 (GRCh38)
- Gene constraint
- LOEUF 0.233 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 71.44 · 2 PDB
Similar variants
- BDNF p.Ala24Thr Uncertain significance ★ ⚠ same residue
- BDNF c.-21-1044G>C Benign ★★ same type
- BDNF c.-21-1065G>A Benign ★★ same type
- BDNF c.-21-15778G>T Benign ★★ same type
- BDNF c.-22+774G>A Benign ★★ same type
- BDNF p.Ala150= Benign ★★ same type
- BDNF p.Asp86= Likely benign ★★ same type
- BDNF p.Gly161= Likely benign ★★ 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/bdnf-p-ala24 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown