PRPH2 p.Ser256fs
c.764dup · VCV4891948
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
PRPH2-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 |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 3 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.98 | GERP -3.1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PRPH2
- Protein
- p.Ser256fs
- Coding
- c.764dup
- MANE Select
- NM_000322
- Type
- Duplication
- Location
- chr6:42704428 (GRCh38)
- Gene constraint
- LOEUF 0.773 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.56 · 1 PDB
Similar variants
- PRPH2 p.Ser256Asn Uncertain significance ★ same residue
- PRPH2 p.Ile33fs Pathogenic ★★ same condition
- PRPH2 p.Pro96fs Pathogenic ★★ same condition
- PRPH2 p.Val73fs Pathogenic/Likely pathogenic ★★ same condition
- PRPH2 c.582-14dup Likely benign ★★ same condition
- PRPH2 p.Asp207fs Pathogenic ★ same condition
- PRPH2 p.Glu300Ter Pathogenic ★ same condition
- PRPH2 p.Glu314fs 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/prph2-p-ser256fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown