BLNK p.Pro166=
c.498C>G · rs1554901767 · VCV1013574
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000424%, nfe)
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 1.1 | GERP 2.4, phastCons 1 |
| Overall | ||
| CADD | 9.417 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000424%
European (non-Finnish) · 5/1,180,032 alleles
Filtering AF
0.000124%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 9e-05%
Overall
0.000342%
5/1,461,648 alleles · very rare
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
- BLNK
- Protein
- p.Pro166=
- Coding
- c.498C>G
- MANE Select
- NM_013314
- dbSNP
- rs1554901767
- Type
- single nucleotide variant
- Location
- chr10:96223853 (GRCh38)
- Gene constraint
- LOEUF 0.517 · pLI 0.90 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 64.46 · 1 PDB
- Residue 166
- the 'disordered' region
Similar variants
- BLNK c.902+2T>C Likely pathogenic ★★ same type
- BLNK p.Ala176Val Uncertain significance ★★ ⚠ same type
- BLNK p.Ala218Thr Uncertain significance ★★ ⚠ same type
- BLNK p.Ala290Val Uncertain significance ★★ ⚠ same type
- BLNK p.Ala88Ser Uncertain significance ★★ ⚠ same type
- BLNK p.Ala92Asp Uncertain significance ★★ ⚠ same type
- BLNK p.Ala92Thr Uncertain significance ★★ ⚠ same type
- BLNK p.Arg282Gln 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/blnk-p-pro166 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown