PPP1CB p.Pro208=
c.624A>G · rs2465745471 · VCV2858240
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00167%, amr)
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 7.1 | phastCons 1 |
| Overall | ||
| CADD | 17.66 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00167%
Admixed American · 1/59,968 alleles
Overall
0.000124%
2/1,614,002 alleles · very rare
exomes 2/1,461,670 · genomes 0/152,332 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00167% | 59,968 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,504 |
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
- PPP1CB
- Protein
- p.Pro208=
- Coding
- c.624A>G
- MANE Select
- NM_002709
- dbSNP
- rs2465745471
- Type
- single nucleotide variant
- Location
- chr2:28788689 (GRCh38)
- Gene constraint
- LOEUF 0.247 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 91.91
Similar variants
- PPP1CB p.Ala56Pro Likely pathogenic ★★★ ⚠ same type
- PPP1CB p.Glu183Ala Pathogenic ★★★ ⚠ same type
- PPP1CB p.Glu183Val Pathogenic ★★★ same type
- PPP1CB p.Glu274Lys Likely pathogenic ★★★ same type
- PPP1CB p.Pro49Arg Pathogenic ★★★ same type
- PPP1CB c.53-9G>A Benign ★★★ same type
- PPP1CB p.Asp9= Benign ★★★ same type
- PPP1CB p.Gln67= Benign ★★★ 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/ppp1cb-p-pro208 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown