BFSP1 p.Ala237=
c.711G>A · VCV3388058
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0766%, sas)
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 -20 | GERP -5.3 |
| Overall | ||
| CADD | 0.097 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0766%
South Asian · 68/88,774 alleles
Filtering AF
0.062%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0566%
Overall
0.0133%
214/1,603,102 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0766% | 1,306 |
| European (non-Finnish) | 0.0119% | 8,397 |
| Remaining individualsnot grpmax-eligible | 0.00806% | 12,413 |
| African / African-American | 0.00134% | 74,688 |
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
- BFSP1
- Protein
- p.Ala237=
- Coding
- c.711G>A
- MANE Select
- NM_001195
- Type
- single nucleotide variant
- Location
- chr20:17508913 (GRCh38)
- Gene constraint
- LOEUF 1.371 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 64.66
- Residue 237
- the if rod domain; the 'coil 2' region
Similar variants
- BFSP1 p.Ala237Val Uncertain significance ★ ⚠ same residue
- BFSP1 p.Ala643Thr Uncertain significance ★★ ⚠ same type
- BFSP1 p.Arg560Cys Uncertain significance ★★ ⚠ same type
- BFSP1 p.Arg69Trp Uncertain significance ★★ ⚠ same type
- BFSP1 p.Asp19Asn Uncertain significance ★★ ⚠ same type
- BFSP1 p.Gln294Arg Uncertain significance ★★ ⚠ same type
- BFSP1 p.Glu93Asp Uncertain significance ★★ ⚠ same type
- BFSP1 p.Gly46Trp 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/bfsp1-p-ala237 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown