PPP1CB p.Ser41=
c.123T>A · rs1166955973 · VCV1758041
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Cardiovascular phenotype
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.2 | GERP -1.9, phastCons 1 |
| Overall | ||
| CADD | 12.26 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- PPP1CB
- Protein
- p.Ser41=
- Coding
- c.123T>A
- MANE Select
- NM_002709
- dbSNP
- rs1166955973
- Type
- single nucleotide variant
- Location
- chr2:28776921 (GRCh38)
- Gene constraint
- LOEUF 0.247 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 91.91
Similar variants
- PPP1CB p.Ala2Val Uncertain significance ★★ ⚠ same condition
- PPP1CB p.Leu11Val Uncertain significance ★★ ⚠ same condition
- PPP1CB p.Leu6Val Uncertain significance ★★ ⚠ same condition
- PPP1CB p.Phe234Leu Uncertain significance ★★ ⚠ same condition
- PPP1CB p.Ser99Cys Uncertain significance ★★ ⚠ same condition
- PPP1CB p.Ala127= Likely benign ★★ same condition
- PPP1CB p.Ala228= Likely benign ★★ same condition
- PPP1CB p.Ala258= Likely 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/ppp1cb-p-ser41 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown