PDE6A p.Phe783fs
c.2346dup · rs2113503234 · VCV1460102
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 20 of 22 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 2.8, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- PDE6A
- Protein
- p.Phe783fs
- Coding
- c.2346dup
- MANE Select
- NM_000440
- dbSNP
- rs2113503234
- Type
- Duplication
- Location
- chr5:149866181 (GRCh38)
- Gene constraint
- LOEUF 0.888 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.80
- Residue 783
- the pdease domain
Similar variants
- PDE6A p.Phe783= Likely benign ★★ same residue
- PDE6A p.Ile659fs Pathogenic/Likely pathogenic ★★ same type
- PDE6A c.718-9dup Benign/Likely benign ★★ same type
- PDE6A c.2199+1dup Likely pathogenic ★ same type
- PDE6A p.Ile664fs Pathogenic ★ same type
- PDE6A p.Leu419fs Likely pathogenic ★ same type
- PDE6A p.Leu736fs Pathogenic ★ same type
- PDE6A p.Val454fs 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/pde6a-p-phe783fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown