CRYAA p.Leu75=
c.225C>T · rs752790618 · VCV2745366
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 6,042)
Conditions
1
cataract 9 multiple types
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 2.7 | GERP -3.4, phastCons 1 |
| Overall | ||
| CADD | 7.186 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 6,042). 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.Leu75=
- Coding
- c.225C>T
- MANE Select
- NM_000394
- dbSNP
- rs752790618
- Type
- single nucleotide variant
- Location
- chr21:43170552 (GRCh38)
- Structure
- AlphaFold pLDDT 74.60 · 5 PDB
- Residue 75
- a UniProt-annotated variant site (in ctrct9; uncertain significance); the shsp domain; a β-strand
Similar variants
- 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
- CRYAA p.Ala155Asp 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/cryaa-p-leu75 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown