CRX p.Ala247fs
c.739del · VCV3781124
Uncertain significance
Single submitter
Classification
Uncertain significance
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 | escapes | premature termination codon in the last exon (4 of 4) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP -1.6, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CRX
- Protein
- p.Ala247fs
- Coding
- c.739del
- MANE Select
- NM_000554
- Type
- Deletion
- Location
- chr19:47839805 (GRCh38)
- Gene constraint
- LOEUF 0.673 · pLI 0.72 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 61.78 · 1 PDB
Similar variants
- CRX p.Ala247Asp Uncertain significance ★★ ⚠ same residue
- CRX p.Ala247Val Uncertain significance ★★ ⚠ same residue
- CRX p.Ala166_Ser167insTer Pathogenic/Likely pathogenic ★★ same type
- CRX p.Ala200fs Pathogenic/Likely pathogenic ★★ same type
- CRX p.Cys202fs Pathogenic ★★ same type
- CRX p.Gln39_Glu42del Pathogenic/Likely pathogenic ★★ same type
- CRX p.Leu146fs Pathogenic/Likely pathogenic ★★ same type
- CRX p.Pro108fs Pathogenic/Likely 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/crx-p-ala247fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown