SLC4A1 p.Pro97=
c.291G>A · rs1302300341 · VCV2870363
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00223%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -7.7 | GERP -4.4 |
| Overall | ||
| CADD | 3.981 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00223%
East Asian · 1/44,890 alleles
Filtering AF
6.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.9e-05%
Overall
0.000434%
7/1,614,022 alleles · very rare
exomes 5/1,461,864 · genomes 2/152,158 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00223% | 44,890 |
| Admixed American | 0.00167% | 60,008 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,488 |
| African / African-American | 0.00134% | 74,906 |
| European (non-Finnish) | 0.000254% | 393,343 |
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
- SLC4A1
- Protein
- p.Pro97=
- Coding
- c.291G>A
- MANE Select
- NM_000342
- dbSNP
- rs1302300341
- Type
- single nucleotide variant
- Location
- chr17:44260693 (GRCh38)
- Gene constraint
- LOEUF 0.407 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 82.49 · 54 PDB
- Residue 97
- an α-helix; the 'globular' region
Similar variants
- SLC4A1 p.Pro97Leu Uncertain significance ★ ⚠ same residue
- SLC4A1 p.Pro97fs Likely pathogenic ★ same residue
- SLC4A1 c.1431+1G>A Pathogenic ★★ same type
- SLC4A1 c.16-1G>A Pathogenic/Likely pathogenic ★★ same type
- SLC4A1 c.1626+1G>A Likely pathogenic ★★ same type
- SLC4A1 c.168+1G>A Pathogenic/Likely pathogenic ★★ same type
- SLC4A1 c.1801-2A>G Pathogenic/Likely pathogenic ★★ same type
- SLC4A1 c.1890+1G>A Pathogenic/Likely pathogenic ★★ 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/slc4a1-p-pro97 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown