THRB p.Pro453Asp
c.1357_1358delinsGA · rs2148780504 · VCV1683251
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 10 | GERP 2.1, phastCons 1 |
| Regional constraint | o/e 0.15 | constrained · MANE · 103 bp · p 5.9e-09 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. 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
- THRB
- Protein
- p.Pro453Asp
- Coding
- c.1357_1358delinsGA
- MANE Select
- NM_001354712
- dbSNP
- rs2148780504
- Type
- Indel
- Location
- chr3:24122912 (GRCh38)
- Gene constraint
- LOEUF 0.43 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 80.24 · 34 PDB
- Residue 453
- the nr lbd domain; an α-helix; a UniProt-annotated variant site (in grthd); the 'interaction with nr2f6' region
Similar variants
- THRB p.Pro453Asn Likely pathogenic ★★ same residue
- THRB p.Pro453Ala Pathogenic/Likely pathogenic ★★ same residue
- THRB p.Pro453Ser Pathogenic ★★ same residue
- THRB p.Pro453Thr Pathogenic ★★ same residue
- THRB p.Pro453Leu Likely pathogenic ★ same residue
- THRB p.Pro453His Pathogenic same residue
- THRB p.Met442_Lys443delinsIleTer Pathogenic ★ same type
- PRSS1 p.Arg101_Lys102delinsSerArg 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/thrb-p-pro453asp (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown