PRPF31 p.Pro335fs
c.1001dup · VCV4943846
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
PRPF31-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 10 of 14 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.5 | GERP 0.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PRPF31
- Protein
- p.Pro335fs
- Coding
- c.1001dup
- MANE Select
- NM_015629
- Type
- Duplication
- Location
- chr19:54128126 (GRCh38)
- Gene constraint
- LOEUF 0.347 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 77.69 · 30 PDB
- Residue 335
- the 'disordered' region; an α-helix
Disease context
PRPF31-related disorder
Similar variants
- PRPF31 p.Asp56fs Pathogenic/Likely pathogenic ★★ same condition
- PRPF31 p.Gln431fs Pathogenic ★★ same condition
- PRPF31 p.Val305dup Likely pathogenic ★★ same condition
- PRPF31 p.Pro335= Likely benign ★★ same residue
- PRPF31 c.1074-5_1093dup Likely pathogenic ★ same condition
- PRPF31 p.Gln332fs Likely pathogenic ★ same condition
- PRPF31 p.Glu370fs Likely pathogenic ★ same condition
- PRPF31 p.Glu62Ter 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/prpf31-p-pro335fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown