CRYAA p.Gln147fs
c.440del · rs1114167311 · VCV252948
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (3 of 3) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.1 | GERP 0.47, phastCons 1 |
| Region caveats | ||
| Repeat context | seg dup | · reads may not map uniquely · confidence, not pathogenicity |
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
- CRYAA
- Protein
- p.Gln147fs
- Coding
- c.440del
- MANE Select
- NM_000394
- dbSNP
- rs1114167311
- Type
- Deletion
- Location
- chr21:43172198 (GRCh38)
- Structure
- AlphaFold pLDDT 74.60 · 5 PDB
- Residue 147
- a modified residue (deamidated glutamine; partial); a UniProt-annotated variant site (in ctrct9; uncertain significance); the shsp domain
Similar variants
- CRYAA c.190-24_190-10del Uncertain significance ★ same condition
- CRYAA p.Arg116Cys Pathogenic ★★ same condition
- CRYAA p.Arg116His Pathogenic ★★ same condition
- CRYAA p.Arg12Cys Pathogenic/Likely pathogenic ★★ same condition
- CRYAA p.Arg21Gln Pathogenic ★★ ⚠ same condition
- CRYAA p.Arg21Trp Pathogenic/Likely pathogenic ★★ same condition
- CRYAA p.Arg54Cys Pathogenic/Likely pathogenic ★★ same condition
- CRYAA p.Gly98Arg 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/cryaa-p-gln147fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown