CRYAA p.Arg117del
c.346CGC[1] · VCV4946374
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
CRYAA-related disorder
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 5.1 | GERP 1.9, phastCons 1 |
| Region caveats | ||
| Repeat context | seg dup | · reads may not map uniquely · confidence, not pathogenicity |
Variant & gene context
- Gene
- CRYAA
- Protein
- p.Arg117del
- Coding
- c.346CGC[1]
- MANE Select
- NM_000394
- Type
- Microsatellite
- Location
- chr21:43172103 (GRCh38)
- Structure
- AlphaFold pLDDT 74.60 · 5 PDB
- Residue 117
- a UniProt-annotated variant site (in ctrct9; uncertain significance); the shsp domain; a UniProt-annotated variant site (in ctrct9)
Disease context
CRYAA-related disorder
Similar variants
- CRYAA p.Arg117Cys Uncertain significance ★ ⚠ same residue
- CRYAA p.Arg116Cys Pathogenic ★★ same condition
- CRYAA p.Arg116His Pathogenic ★★ same condition
- CRYAA p.Asp105= Likely benign same condition
- CRYAA p.Glu95= Likely benign 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/cryaa-p-arg117del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown