PRKCB p.Ser234=
c.702G>A · rs114093019 · VCV739576
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.633%, afr)
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 -4.5 | GERP -3.5 |
| Overall | ||
| CADD | 4.77 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.633%
African / African-American · 475/74,984 alleles
Filtering AF
0.586%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.568%
Overall
0.033%
532/1,613,744 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.633% | 158 |
| Admixed American | 0.045% | 2,220 |
| Remaining individualsnot grpmax-eligible | 0.0352% | 2,840 |
| Middle Eastern | 0.0165% | 6,058 |
| South Asian | 0.0011% | 91,042 |
| European (non-Finnish) | 0.000509% | 196,644 |
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
- PRKCB
- Protein
- p.Ser234=
- Coding
- c.702G>A
- MANE Select
- NM_002738
- dbSNP
- rs114093019
- Type
- single nucleotide variant
- Location
- chr16:24094178 (GRCh38)
- Gene constraint
- LOEUF 0.241 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 85.95 · 8 PDB
- Residue 234
- the c2 domain; an α-helix
Similar variants
- PRKCB c.1395-4A>G Benign ★★ same type
- PRKCB p.Ile174= Benign ★★ same type
- PRKCB p.Lys29= Benign/Likely benign ★★ same type
- PRKCB p.Pro400= Likely benign ★★ same type
- PRKCB p.Ala2Pro Uncertain significance ★ ⚠ same type
- PRKCB p.Ala395Thr Uncertain significance ★ ⚠ same type
- PRKCB p.Ala539Thr Uncertain significance ★ ⚠ same type
- PRKCB p.Ala6Thr 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/prkcb-p-ser234 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown