GJA8 p.Arg142=
c.426G>A · rs782313023 · VCV2865873
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0133%, amr)
Conditions
1
cataract 1 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 1.1 | GERP -3.1, phastCons 1 |
| Overall | ||
| CADD | 7.577 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0133%
Admixed American · 8/60,010 alleles
Filtering AF
0.00661%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00482%
Overall
0.000743%
12/1,614,082 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0133% | 7,501 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,244 |
| European (non-Finnish) | 0.000169% | 590,023 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- GJA8
- Protein
- p.Arg142=
- Coding
- c.426G>A
- MANE Select
- NM_005267
- dbSNP
- rs782313023
- Type
- single nucleotide variant
- Location
- chr1:147908381 (GRCh38)
- Gene constraint
- LOEUF 1.304 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 65.85
- Residue 142
- a disulfide bond
Similar variants
- GJA8 p.Arg142Gln Uncertain significance ★ ⚠ same residue
- GJA8 p.Arg76His Likely pathogenic ★★ same condition
- GJA8 p.Asp47His Pathogenic/Likely pathogenic ★★ same condition
- GJA8 p.Gly22Arg Likely pathogenic ★★ same condition
- GJA8 p.Gly22Ser Pathogenic/Likely pathogenic ★★ same condition
- GJA8 p.Gly46Glu Pathogenic ★★ same condition
- GJA8 p.Gly60Ser Pathogenic/Likely pathogenic ★★ same condition
- GJA8 p.Pro88Ala Pathogenic/Likely 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/gja8-p-arg142 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown