CRX p.Arg41Trp
c.120_121delinsTT · VCV3248970
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
inherited retinal dystrophy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.4 | GERP -0.46, phastCons 1 |
| Regional constraint | o/e 0.89 | unconstrained · MANE · 1,933 bp · p 0.26 · regional, not allelic |
Variant & gene context
- Gene
- CRX
- Protein
- p.Arg41Trp
- Coding
- c.120_121delinsTT
- MANE Select
- NM_000554
- Type
- Indel
- Location
- chr19:47836262 (GRCh38)
- Gene constraint
- LOEUF 0.673 · pLI 0.72 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 61.78 · 1 PDB
- Residue 41
- a DNA-binding region; a UniProt-annotated variant site (in rp); a UniProt-annotated variant site (in cord2; exhibits reduced dna binding, transcriptional synergy and interaction with nrl)
Similar variants
- CRX p.Arg41Gln Pathogenic/Likely pathogenic ★★ same residue
- CRX p.Arg41Pro Likely pathogenic ★★ same residue
- CRX p.Arg41= Likely benign ★★ same residue
- CRX p.Arg41del Likely pathogenic ★ same residue
- CRX p.Thr273fs Pathogenic same condition
- CRX c.101-1G>A Pathogenic/Likely pathogenic ★★ same condition
- CRX p.Arg40Gln Pathogenic/Likely pathogenic ★★ same condition
- CRX p.Arg40Trp 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-arg41trp (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown