CA7 p.Val148=
c.444T>C · rs747902788 · VCV723937
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.09%, 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 0.62 | GERP -3.7, phastCons 1 |
| Overall | ||
| CADD | 7.202 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.09%
Admixed American · 54/59,984 alleles
Filtering AF
0.0709%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0639%
Overall
0.00347%
56/1,613,928 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.09% | 1,111 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,478 |
| African / African-American | 0.00134% | 74,904 |
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.Val148=
- Coding
- c.444T>C
- MANE Select
- NM_005182
- dbSNP
- rs747902788
- Type
- single nucleotide variant
- Location
- chr16:66851549 (GRCh38)
- Gene constraint
- LOEUF 0.566 · pLI 0.88 (gnomAD)
- Structure
- AlphaFold pLDDT 97.15 · 13 PDB
- Residue 148
- the alpha-carbonic anhydrase domain; a β-strand
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-val148 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown