CBLB p.Asp351=
c.1053C>T · rs114003941 · VCV3055619
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.85%, afr)
Conditions
1
CBLB-related disorder
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 3.1 | GERP -0.8, phastCons 1 |
| Overall | ||
| CADD | 5.895 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.85%
African / African-American · 1,374/74,146 alleles
Filtering AF
1.77%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.74%
Overall
0.0995%
1,566/1,573,202 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.85% | 54 |
| Admixed American | 0.151% | 662 |
| Remaining individualsnot grpmax-eligible | 0.136% | 734 |
| Middle Eastern | 0.0504% | 1,983 |
| European (non-Finnish) | 0.00131% | 76,385 |
| South Asian | 0.00112% | 89,026 |
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
- CBLB
- Protein
- p.Asp351=
- Coding
- c.1053C>T
- MANE Select
- NM_170662
- dbSNP
- rs114003941
- Type
- single nucleotide variant
- Location
- chr3:105737189 (GRCh38)
- Gene constraint
- LOEUF 0.406 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 62.88 · 36 PDB
- Residue 351
- the 'linker' region
Disease context
CBLB-related disorder
Similar variants
- CBLB p.Ala621= Benign same condition
- CBLB p.Arg570= Likely benign same condition
- CBLB p.Asn466Asp Benign same condition
- CBLB p.Asn883Asp Benign ⚠ same condition
- CBLB p.Asp424= Benign same condition
- CBLB p.Leu447= Benign same condition
- CBLB p.Lys275= Benign same condition
- CBLB p.Pro280= Benign same condition
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/cblb-p-asp351 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown