DBT p.Lys295Thr
c.884A>C · VCV4838134
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.4972 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| AlphaMissense | 0.4972 | ambiguous |
|---|---|---|
| REVEL | 0.424 | indeterminate |
| SaProt | LLR -13.27 | damaging |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 5 | GERP 1.6, phastCons 1 |
| Regional constraint | o/e 0.88 | unconstrained · MANE · 54 kb · p 0.0036 · regional, not allelic |
| Overall | ||
| CADD | 25.9 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
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
- DBT
- Protein
- p.Lys295Thr
- Coding
- c.884A>C
- MANE Select
- NM_001918
- Type
- single nucleotide variant
- Location
- chr1:100214872 (GRCh38)
- Gene constraint
- LOEUF 1.255 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 78.71 · 5 PDB
- Residue 295
- a modified residue (n6-acetyllysine)
Similar variants
- DBT p.Lys295Arg Uncertain significance ★ ⚠ same residue
- DBT p.Lys295Gln Uncertain significance ★ ⚠ same residue
- DBT c.1281+5A>G Uncertain significance ★★ same condition
- DBT p.Arg61Cys Uncertain significance ★★ ⚠ same condition
- DBT p.Cys279Phe Uncertain significance ★★ ⚠ same condition
- DBT p.Thr171Ile Uncertain significance ★★ ⚠ same condition
- DBT p.Thr407Ala Uncertain significance ★★ ⚠ same condition
- DBT p.Asn326= 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/dbt-p-lys295thr (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown