CIB1 p.Ser44=
c.132C>T · rs1127801 · VCV2877845
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0033%, 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 -1.2 | GERP -4.4 |
| Overall | ||
| CADD | 7.068 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0033%
South Asian · 3/90,852 alleles
Filtering AF
0.000877%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000443%
Overall
0.000558%
9/1,612,150 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0033% | 30,284 |
| African / African-American | 0.00133% | 74,924 |
| European (non-Finnish) | 0.000424% | 235,736 |
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
- CIB1
- Protein
- p.Ser44=
- Coding
- c.132C>T
- MANE Select
- NM_006384
- dbSNP
- rs1127801
- Type
- single nucleotide variant
- Location
- chr15:90232282 (GRCh38)
- Gene constraint
- LOEUF 1.233 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.37 · 9 PDB
- Residue 44
- a UniProt-annotated variant site (in)
Similar variants
- CIB1 p.Ser44Arg Uncertain significance ★ ⚠ same residue
- CIB1 p.Ser44fs Pathogenic ★ same residue
- CIB1 p.Ala184Pro Uncertain significance ★★ ⚠ same type
- CIB1 p.Ala66Thr Uncertain significance ★★ ⚠ same type
- CIB1 p.Arg113His Uncertain significance ★★ ⚠ same type
- CIB1 p.Arg143Gln Uncertain significance ★★ ⚠ same type
- CIB1 p.Arg143Trp Uncertain significance ★★ ⚠ same type
- CIB1 p.Arg72Gln 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/cib1-p-ser44 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown