TXNRD2 p.Val45Ile
c.133G>A · VCV4695276
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
dilated cardiomyopathy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| REVEL | 0.062 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | Δ0.23 | acceptor gain · deltas |
| Constraint at this position | ||
| Conservation | phyloP 5 | GERP 0.41, phastCons 1 |
| Regional constraint | o/e 0.88 | unconstrained · MANE · 65 kb · p 0.0019 · regional, not allelic |
| Overall | ||
| CADD | 18.43 | 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
- TXNRD2
- Protein
- p.Val45Ile
- Coding
- c.133G>A
- MANE Select
- NM_006440
- Type
- single nucleotide variant
- Location
- chr22:19931069 (GRCh38)
- Gene constraint
- LOEUF 1.18 · pLI <0.01 (gnomAD)
- Residue 45
- a binding site
Similar variants
- TXNRD2 p.Val45= Conflicting classifications of pathogenicity ★ same residue
- TXNRD2 c.104-1G>A Uncertain significance ★★ same condition
- TXNRD2 c.104-3C>G Uncertain significance ★★ same condition
- TXNRD2 c.1086+4C>T Uncertain significance ★★ same condition
- TXNRD2 c.1087-2A>G Uncertain significance ★★ same condition
- TXNRD2 c.1348-2A>G Uncertain significance ★★ same condition
- TXNRD2 c.1348-9G>A Uncertain significance ★★ same condition
- TXNRD2 c.1445+5G>C Uncertain significance ★★ 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/txnrd2-p-val45ile (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown