CIB2 p.Ser101=
c.303G>A · rs77370542 · VCV226515
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 -2.8 |
| Overall | ||
| CADD | 6.484 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Amishnot grpmax-eligible | 5.62% | 18 |
| Finnishnot grpmax-eligible | 4.48% | 22 |
| European (non-Finnish)grpmax | 3.84% | 26 |
| Remaining individualsnot grpmax-eligible | 2.85% | 35 |
| Admixed American | 1.27% | 79 |
| Ashkenazi Jewishnot grpmax-eligible | 1.23% | 81 |
| South Asian | 0.729% | 137 |
| Middle Eastern | 0.648% | 154 |
| African / African-American | 0.6% | 167 |
| East Asian | 0.0696% | 1,437 |
Amish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.
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
- CIB2
- Protein
- p.Ser101=
- Coding
- c.303G>A
- MANE Select
- NM_006383
- dbSNP
- rs77370542
- Type
- single nucleotide variant
- Location
- chr15:78109278 (GRCh38)
- Gene constraint
- LOEUF 1.274 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.71 · 1 PDB
- Residue 101
- the ef-hand 1 domain; a UniProt-annotated variant site (in dfnb48)
Similar variants
- CIB2 p.Ser101Leu Uncertain significance ★ ⚠ same residue
- CIB2 p.Ser101Thr Uncertain significance ★ ⚠ same residue
- CIB2 p.Ser101fs Pathogenic/Likely pathogenic ★★ same residue
- CIB2 p.Arg104Ter Pathogenic/Likely pathogenic ★★ same type
- CIB2 p.Arg33Ter Pathogenic ★★ same type
- CIB2 p.Arg66Trp Pathogenic/Likely pathogenic ★★ ⚠ same type
- CIB2 c.198+3A>G Uncertain significance ★★ same type
- CIB2 p.Ala108Thr 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/cib2-p-ser101 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown