CA8 p.Pro14=
c.42C>T · rs528318434 · VCV732854
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.43%, eas)
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 -2.8 | GERP -2.5 |
| Overall | ||
| CADD | 2.933 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.43%
East Asian · 191/44,390 alleles
Filtering AF
0.38%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.361%
Overall
0.0137%
220/1,603,430 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.43% | 232 |
| South Asian | 0.0213% | 4,699 |
| Middle Eastern | 0.0165% | 6,052 |
| Remaining individualsnot grpmax-eligible | 0.0129% | 7,769 |
| European (non-Finnish) | 8.5e-05% | 1,176,116 |
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.Pro14=
- Coding
- c.42C>T
- MANE Select
- NM_004056
- dbSNP
- rs528318434
- Type
- single nucleotide variant
- Location
- chr8:60281106 (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 14
- the 'disordered' region
Similar variants
- CA8 p.Pro14Arg Uncertain significance ★★ ⚠ same residue
- CA8 p.Arg213Trp 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-pro14 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown