CBLIF p.Ser365=
c.1095T>A · rs759472187 · VCV742712
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00661%, 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 -1.8 | GERP -2.7 |
| Overall | ||
| CADD | 3.689 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00661%
South Asian · 6/90,724 alleles
Filtering AF
0.00287%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00196%
Overall
0.000376%
6/1,595,920 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
- CBLIF
- Protein
- p.Ser365=
- Coding
- c.1095T>A
- MANE Select
- NM_005142
- dbSNP
- rs759472187
- Type
- single nucleotide variant
- Location
- chr11:59831775 (GRCh38)
- Gene constraint
- LOEUF 0.865 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.69 · 2 PDB
- Residue 365
- a binding site
Similar variants
- CBLIF c.79+1G>A Pathogenic ★★ same type
- CBLIF p.Ser46Leu Likely pathogenic ★★ ⚠ same type
- CBLIF p.Ala377Thr Uncertain significance ★★ ⚠ same type
- CBLIF p.Ala377Val Uncertain significance ★★ ⚠ same type
- CBLIF p.Arg104Gln Uncertain significance ★★ ⚠ same type
- CBLIF p.Arg352Cys Uncertain significance ★★ ⚠ same type
- CBLIF p.Arg352His Uncertain significance ★★ ⚠ same type
- CBLIF p.Gln351Glu 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/cblif-p-ser365 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown