PRKCG p.Val33=
c.99C>G · rs147016991 · VCV1807563
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 2.3 | GERP -2.3, phastCons 1 |
| Overall | ||
| CADD | 13.0 | 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
- PRKCG
- Protein
- p.Val33=
- Coding
- c.99C>G
- MANE Select
- NM_002739
- dbSNP
- rs147016991
- Type
- single nucleotide variant
- Location
- chr19:53882593 (GRCh38)
- Gene constraint
- LOEUF 0.476 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 82.32 · 2 PDB
Similar variants
- PRKCG p.Asn642Lys Likely pathogenic ★★ same type
- PRKCG p.Gln127Arg Pathogenic ★★ same type
- PRKCG p.Gln127Lys Likely pathogenic ★★ same type
- PRKCG p.Gly63Val Likely pathogenic ★★ same type
- PRKCG p.His101Tyr Pathogenic/Likely pathogenic ★★ same type
- PRKCG p.His74Asn Likely pathogenic ★★ same type
- PRKCG p.His74Tyr Likely pathogenic ★★ same type
- PRKCG p.Leu120Phe Likely pathogenic ★★ 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/prkcg-p-val33 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown