CRX p.Pro64fs
c.191del · rs1968117526 · VCV973905
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 3 of 4 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.8, 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
- CRX
- Protein
- p.Pro64fs
- Coding
- c.191del
- MANE Select
- NM_000554
- dbSNP
- rs1968117526
- Type
- Deletion
- Location
- chr19:47836331 (GRCh38)
- Gene constraint
- LOEUF 0.673 · pLI 0.72 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 61.78 · 1 PDB
- Residue 64
- a DNA-binding region
Disease context
Leber congenital amaurosis 7 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Leber congenital amaurosis (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive
- Onset
- Infancy, Neonatal
- Prevalence
- 1-9 / 100 000 (Europe)
Similar variants
- CRX p.Ala166_Ser167insTer Pathogenic/Likely pathogenic ★★ same condition
- CRX p.Ala200fs Pathogenic/Likely pathogenic ★★ same condition
- CRX p.Cys202fs Pathogenic ★★ same condition
- CRX p.Gln39_Glu42del Pathogenic/Likely pathogenic ★★ same condition
- CRX p.Leu146fs Pathogenic/Likely pathogenic ★★ same condition
- CRX p.Pro108fs Pathogenic/Likely pathogenic ★★ same condition
- CRX p.Pro135fs Pathogenic/Likely pathogenic ★★ same condition
- CRX p.Pro144fs Pathogenic/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/crx-p-pro64fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown