CRYAA p.Ser162=
c.486G>A · rs376490511 · VCV1139955
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
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 -13 | GERP -2.8 |
| Overall | ||
| CADD | 0.077 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1. 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.Ser162=
- Coding
- c.486G>A
- MANE Select
- NM_000394
- dbSNP
- rs376490511
- Type
- single nucleotide variant
- Location
- chr21:43172244 (GRCh38)
- Structure
- AlphaFold pLDDT 74.60 · 5 PDB
- Residue 162
- a UniProt-annotated variant site (in ctrct9; uncertain significance); the shsp domain
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-ser162 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown