PDE6B p.Asp127fs
c.378del · rs755325901 · VCV3018508
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 22 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.9 | GERP 0.93, phastCons 0.99 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- PDE6B
- Protein
- p.Asp127fs
- Coding
- c.378del
- MANE Select
- NM_000283
- dbSNP
- rs755325901
- Type
- Deletion
- Location
- chr4:625999 (GRCh38)
- Gene constraint
- LOEUF 1.238 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.72
- Residue 127
- the gaf 1 domain
Similar variants
- PDE6B p.Asp127Asn Uncertain significance ★★ ⚠ same residue
- PDE6B c.2353-18_2354del Pathogenic/Likely pathogenic ★★ same type
- PDE6B p.Ala143fs Pathogenic ★★ same type
- PDE6B p.Arg82fs Pathogenic ★★ same type
- PDE6B p.Asn643fs Pathogenic/Likely pathogenic ★★ same type
- PDE6B p.Asp252fs Pathogenic/Likely pathogenic ★★ same type
- PDE6B p.Asp288fs Pathogenic ★★ same type
- PDE6B p.His620fs 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/pde6b-p-asp127fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown