SLC4A4 p.Pro787=
c.2361G>A · VCV3665361
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0467%, afr)
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 -1.9 | GERP -4.4 |
| Overall | ||
| CADD | 5.093 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0467%
African / African-American · 35/74,996 alleles
Filtering AF
0.0345%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0303%
Overall
0.00459%
74/1,613,612 alleles · ultra-rare
exomes 54/1,461,438 · genomes 20/152,174 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0467% | 2,143 |
| South Asian | 0.022% | 4,554 |
| Admixed American | 0.0167% | 5,994 |
| Middle Eastern | 0.0165% | 6,056 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,493 |
| European (non-Finnish) | 0.000254% | 393,252 |
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
- SLC4A4
- Protein
- p.Pro787=
- Coding
- c.2361G>A
- MANE Select
- NM_001098484
- Type
- single nucleotide variant
- Location
- chr4:71534307 (GRCh38)
- Gene constraint
- LOEUF 0.329 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 70.77 · 1 PDB
Similar variants
- SLC4A4 c.1208+4A>C Uncertain significance ★★ same type
- SLC4A4 c.1322+5C>T Uncertain significance ★★ same type
- SLC4A4 c.*26G>T Uncertain significance ★★ same type
- SLC4A4 p.Ala454Thr Uncertain significance ★★ ⚠ same type
- SLC4A4 p.Ala454Val Uncertain significance ★★ ⚠ same type
- SLC4A4 p.Ala667Thr Uncertain significance ★★ ⚠ same type
- SLC4A4 p.Ala744Val Uncertain significance ★★ ⚠ same type
- SLC4A4 p.Ala817Thr 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/slc4a4-p-pro787 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown