CA9 p.Pro114=
c.342T>C · rs181213293 · VCV739805
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.498%, amr)
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 -0.84 | GERP -3.2 |
| Overall | ||
| CADD | 5.597 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.498%
Admixed American · 299/60,024 alleles
Filtering AF
0.452%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.434%
Overall
0.0188%
304/1,614,150 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.498% | 201 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,837 |
| African / African-American | 0.00133% | 75,052 |
| European (non-Finnish) | 8.47e-05% | 1,179,993 |
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
- CA9
- Protein
- p.Pro114=
- Coding
- c.342T>C
- MANE Select
- NM_001216
- dbSNP
- rs181213293
- Type
- single nucleotide variant
- Location
- chr9:35674301 (GRCh38)
- Gene constraint
- LOEUF 1.021 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.13 · 32 PDB
- Residue 114
- the 'disordered' region
Similar variants
- CA9 p.Ala155Thr Uncertain significance ★ ⚠ same type
- CA9 p.Ala176Val Uncertain significance ★ ⚠ same type
- CA9 p.Ala232Val Uncertain significance ★ ⚠ same type
- CA9 p.Ala300Ser Uncertain significance ★ ⚠ same type
- CA9 p.Ala353Thr Uncertain significance ★ ⚠ same type
- CA9 p.Ala377Glu Uncertain significance ★ ⚠ same type
- CA9 p.Ala425Ser Uncertain significance ★ ⚠ same type
- CA9 p.Ala430Thr Uncertain significance ★ ⚠ 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/ca9-p-pro114 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown