CRYBB2 p.Arg98Pro
c.292_293delinsCC · rs2517855724 · VCV2833640
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
cataract 3 multiple types
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 4.4 | GERP -0.86, phastCons 1 |
| Regional constraint | o/e 0.74 | unconstrained · MANE · 10 kb · p 1.7e-05 · regional, not allelic |
| Region caveats | ||
| Repeat context | seg dup | · reads may not map uniquely · confidence, not pathogenicity |
Population frequency
dbSNP / gnomAD
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
- CRYBB2
- Protein
- p.Arg98Pro
- Coding
- c.292_293delinsCC
- MANE Select
- NM_000496
- dbSNP
- rs2517855724
- Type
- Indel
- Location
- chr22:25227971 (GRCh38)
- Gene constraint
- LOEUF 0.765 · pLI 0.09 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 89.05 · 3 PDB
- Residue 98
- a β-strand; the beta/gamma crystallin 'greek key' 2 domain
Similar variants
- CRYBB2 p.Arg189_Arg191delinsCysIleHis Uncertain significance ★ same condition
- CRYBB2 p.Arg188Cys Pathogenic/Likely pathogenic ★★ same condition
- CRYBB2 p.Arg188His Pathogenic ★★ same condition
- CRYBB2 p.Gln155Ter Pathogenic/Likely pathogenic ★★ same condition
- CRYBB2 p.Gly119Arg Pathogenic/Likely pathogenic ★★ same condition
- CRYBB2 p.Arg160Pro Uncertain significance ★★ ⚠ same condition
- CRYBB2 p.Gly57Glu Uncertain significance ★★ ⚠ same condition
- CRYBB2 p.Gly61Ser Uncertain significance ★★ ⚠ 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/crybb2-p-arg98pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown