BLK p.Ser488=
c.1464G>A · rs755315801 · VCV3037816
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0369%, 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 -5.9 | GERP -4 |
| Overall | ||
| CADD | 5.306 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0369%
Admixed American · 22/59,552 alleles
Filtering AF
0.025%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.021%
Overall
0.0015%
24/1,601,404 alleles · ultra-rare
exomes 23/1,449,150 · genomes 1/152,254 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0369% | 2,707 |
| European (non-Finnish) | 0.00017% | 588,866 |
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
- BLK
- Protein
- p.Ser488=
- Coding
- c.1464G>A
- MANE Select
- NM_001715
- dbSNP
- rs755315801
- Type
- single nucleotide variant
- Location
- chr8:11564054 (GRCh38)
- Gene constraint
- LOEUF 1.295 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.89
- Residue 488
- the protein kinase domain
Similar variants
- BLK p.Arg131Gln Uncertain significance ★★ ⚠ same type
- BLK p.Arg180His Uncertain significance ★★ ⚠ same type
- BLK p.Arg238Trp Uncertain significance ★★ ⚠ same type
- BLK p.Arg295Trp Uncertain significance ★★ same type
- BLK p.Arg298Gln Uncertain significance ★★ ⚠ same type
- BLK p.Arg466His Uncertain significance ★★ ⚠ same type
- BLK p.Asp68Val Uncertain significance ★★ same type
- BLK p.Gln226Pro 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/blk-p-ser488 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown