CA8 p.Gly158=
c.474G>A · rs1432231964 · VCV1695231
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000678%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · C>A here scores Δ0.29 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.35 | GERP -3.4, phastCons 0.99 |
| Overall | ||
| CADD | 9.023 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000678%
European (non-Finnish) · 8/1,179,890 alleles
Filtering AF
0.000292%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000211%
Overall
0.000547%
8/1,461,712 alleles · very rare
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
- CA8
- Protein
- p.Gly158=
- Coding
- c.474G>A
- MANE Select
- NM_004056
- dbSNP
- rs1432231964
- Type
- single nucleotide variant
- Location
- chr8:60232323 (GRCh38)
- Gene constraint
- LOEUF 0.698 · pLI 0.24 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 90.51 · 1 PDB
- Residue 158
- the alpha-carbonic anhydrase domain
Similar variants
- CA8 p.Arg213Trp Uncertain significance ★★ ⚠ same type
- CA8 p.Pro14Arg Uncertain significance ★★ ⚠ same type
- CA8 p.Ser71Phe Uncertain significance ★★ ⚠ same type
- CA8 c.100+154T>C Benign ★★ same type
- CA8 c.100+19G>A Benign ★★ same type
- CA8 c.100+37G>A Benign ★★ same type
- CA8 c.100+81C>T Benign ★★ same type
- CA8 c.100+85T>C Benign ★★ same type
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/ca8-p-gly158 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown