BLK p.Phe409=
c.1227C>T · rs200819560 · VCV2174471
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.201%, eas)
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 -11 | GERP -4 |
| Overall | ||
| CADD | 1.327 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.201%
East Asian · 90/44,878 alleles
Filtering AF
0.167%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.155%
Overall
0.0112%
180/1,614,174 alleles · rare
exomes 155/1,461,810 · genomes 25/152,364 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.201% | 499 |
| Ashkenazi Jewishnot grpmax-eligible | 0.027% | 3,700 |
| South Asian | 0.0253% | 3,960 |
| Admixed American | 0.025% | 4,002 |
| African / African-American | 0.0186% | 5,362 |
| Remaining individualsnot grpmax-eligible | 0.016% | 6,251 |
| European (non-Finnish) | 0.00169% | 59,002 |
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.Phe409=
- Coding
- c.1227C>T
- MANE Select
- NM_001715
- dbSNP
- rs200819560
- Type
- single nucleotide variant
- Location
- chr8:11563025 (GRCh38)
- Gene constraint
- LOEUF 1.295 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.89
- Residue 409
- 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-phe409 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown