TH p.Glu114=
c.342G>A · rs886038763 · VCV263256
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
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 | <0.2 | all four deltas below 0.2 · C>A here scores Δ0.30 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.6 | GERP -0.39, phastCons 1 |
| Overall | ||
| CADD | 11.98 | 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
- TH
- Protein
- p.Glu114=
- Coding
- c.342G>A
- MANE Select
- NM_000360
- dbSNP
- rs886038763
- Type
- single nucleotide variant
- Location
- chr11:2168636 (GRCh38)
- Gene constraint
- LOEUF 1.27 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.75 · 7 PDB
Similar variants
- TH p.Glu114Lys Uncertain significance ★★ ⚠ same residue
- TH c.1200+2T>C Likely pathogenic ★★ same type
- TH c.1334+1G>A Likely pathogenic ★★ same type
- TH c.312+1G>A Likely pathogenic ★★ same type
- TH c.488-1G>A Pathogenic ★★ same type
- TH c.644+1G>A Likely pathogenic ★★ same type
- TH c.695+1G>C Likely pathogenic ★★ same type
- TH c.90+10C>T Pathogenic/Likely pathogenic ★★ 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/th-p-glu114 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown