CLPP p.Thr37fs
c.110del · VCV4886519
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 1 of 6 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.53 | GERP -1.4, phastCons 0.001 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CLPP
- Protein
- p.Thr37fs
- Coding
- c.110del
- MANE Select
- NM_006012
- Type
- Deletion
- Location
- chr19:6361684 (GRCh38)
- Gene constraint
- LOEUF 0.936 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 82.68 · 32 PDB
Similar variants
- CLPP p.Ala10fs Pathogenic ★★ same type
- CLPP p.Pro164fs Pathogenic ★ same type
- CLPP p.Ser110fs Pathogenic ★ same type
- CLPP c.555+106_555+107del Likely benign ★ same type
- CLPP c.555+107del Benign ★ same type
- CLPP c.556-14_556-4del Likely benign ★ same type
- CLPP c.556-238_556-235del Likely benign ★ same type
- CLPP c.556-295del Benign ★ 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/clpp-p-thr37fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown