PREPL p.Asp51fs
c.151_162delinsTATCATT · VCV4795422
Pathogenic
Single submitter
Classification
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 4 of 14 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.8 | GERP 0.24, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PREPL
- Protein
- p.Asp51fs
- Coding
- c.151_162delinsTATCATT
- MANE Select
- NM_001171613
- Type
- Indel
- Location
- chr2:44343932 (GRCh38)
- Gene constraint
- LOEUF 1.247 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 82.46 · 2 PDB
Similar variants
- SLC3A1 p.Ala672Ter Likely pathogenic ★ same type
- PREPL c.1630-4_1630-3delinsAT Uncertain significance ★ same type
- PREPL c.-27_-26delinsAT Uncertain significance ★ same type
- PREPL p.Lys205fs Pathogenic same type
- SLC3A1 p.Ile589fs 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/prepl-p-asp51fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown