CA7 p.His66=
c.198C>T · rs149281889 · VCV713629
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.39%, nfe)
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 0.56 | GERP -0.64, phastCons 1 |
| Overall | ||
| CADD | 8.126 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.39%
European (non-Finnish) · 4,603/1,180,034 alleles
Filtering AF
0.381%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.377%
Overall
0.304%
4,900/1,614,242 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.39% | 256 |
| Remaining individualsnot grpmax-eligible | 0.299% | 334 |
| Admixed American | 0.07% | 1,429 |
| Ashkenazi Jewishnot grpmax-eligible | 0.054% | 1,850 |
| African / African-American | 0.0506% | 1,976 |
| Finnishnot grpmax-eligible | 0.0187% | 5,337 |
| South Asian | 0.0022% | 45,545 |
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
- CA7
- Protein
- p.His66=
- Coding
- c.198C>T
- MANE Select
- NM_005182
- dbSNP
- rs149281889
- Type
- single nucleotide variant
- Location
- chr16:66847187 (GRCh38)
- Gene constraint
- LOEUF 0.566 · pLI 0.88 (gnomAD)
- Structure
- AlphaFold pLDDT 97.15 · 13 PDB
- Residue 66
- the alpha-carbonic anhydrase domain; an active site
Similar variants
- CA7 p.Ala165Val Uncertain significance ★ ⚠ same type
- CA7 p.Ala55Asp Uncertain significance ★ ⚠ same type
- CA7 p.Ala55Gly Uncertain significance ★ ⚠ same type
- CA7 p.Arg161Leu Uncertain significance ★ ⚠ same type
- CA7 p.Arg191Trp Uncertain significance ★ ⚠ same type
- CA7 p.Arg215Trp Uncertain significance ★ ⚠ same type
- CA7 p.Arg256His Uncertain significance ★ ⚠ same type
- CA7 p.Arg263Gln 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/ca7-p-his66 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown