CRB1 p.Arg1050=
c.3150G>A · rs775734395 · VCV759882
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00134%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.62 | GERP 0.96, phastCons 0.066 |
| Overall | ||
| CADD | 8.396 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00134%
African / African-American · 1/74,898 alleles
Overall
0.000657%
1/152,154 alleles · very rare
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
- CRB1
- Protein
- p.Arg1050=
- Coding
- c.3150G>A
- MANE Select
- NM_201253
- dbSNP
- rs775734395
- Type
- single nucleotide variant
- Location
- chr1:197435013 (GRCh38)
- Gene constraint
- LOEUF 0.776 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.19 · 1 PDB
- Residue 1050
- a UniProt-annotated variant site (in lca8); the laminin g-like 3 domain
Similar variants
- CRB1 p.Arg1050Lys Uncertain significance ★ ⚠ same residue
- CRB1 p.Arg1050Trp Uncertain significance ★ ⚠ same residue
- CRB1 c.1172-2A>G Likely pathogenic ★★ same type
- CRB1 c.2128+1G>C Pathogenic/Likely pathogenic ★★ same type
- CRB1 c.2129-1G>A Pathogenic/Likely pathogenic ★★ same type
- CRB1 c.2129-1G>C Pathogenic ★★ same type
- CRB1 c.2129-2A>G Pathogenic ★★ same type
- CRB1 c.2676+1G>A 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/crb1-p-arg1050 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown