TH p.Val81fs
c.242del · VCV3646735
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
TH-deficient dopa-responsive dystonia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.079 | GERP -1.4 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TH
- Protein
- p.Val81fs
- Coding
- c.242del
- MANE Select
- NM_000360
- Type
- Deletion
- Location
- chr11:2169720 (GRCh38)
- Gene constraint
- LOEUF 1.27 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.75 · 7 PDB
Disease context
TH-deficient dopa-responsive dystonia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Autosomal recessive dopa-responsive dystonia (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
Similar variants
- TH p.Val81Met Benign/Likely benign ★★ same residue
- TH p.Gln346fs Pathogenic/Likely pathogenic ★★ same condition
- TH p.Glu375fs Pathogenic/Likely pathogenic ★★ same condition
- TH p.His335fs Likely pathogenic ★★ same condition
- TH p.Ser195fs Pathogenic/Likely pathogenic ★★ same condition
- TH p.Ser404fs Pathogenic/Likely pathogenic ★★ same condition
- TH p.Thr238fs Pathogenic/Likely pathogenic ★★ same condition
- TH p.Val18fs Pathogenic/Likely pathogenic ★★ 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/th-p-val81fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown