PPP1R7
Chr 2protein phosphatase 1 regulatory subunit 7
Also known as: SDS22
This gene encodes a regulatory subunit of protein phosphatase 1 that is required for completion of the mitotic cycle and targets the phosphatase to mitotic kinetochores. The gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.24), but no definitive disease associations have been established in the provided data. Additional clinical and functional studies would be needed to determine if mutations in this gene cause human disease.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
177 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 93 | 0 | 93 |
Likely Pathogenic | 0 | 0 | 11 | 0 | 11 |
VUS | 0 | 40 | 15 | 0 | 55 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 0 | 41 | 119 | 1 | 161 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PPP1R7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools