PRKACA p.Pro244=
c.732C>T · rs776566422 · VCV3038163
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00833%, amr)
Conditions
1
PRKACA-related disorder
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 2.1 | phastCons 1 |
| Overall | ||
| CADD | 10.27 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00833%
Admixed American · 5/60,008 alleles
Filtering AF
0.00323%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00207%
Overall
0.00031%
5/1,613,984 alleles · very rare
exomes 3/1,461,828 · genomes 2/152,156 · joint denominator
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
- PRKACA
- Protein
- p.Pro244=
- Coding
- c.732C>T
- MANE Select
- NM_002730
- dbSNP
- rs776566422
- Type
- single nucleotide variant
- Location
- chr19:14097394 (GRCh38)
- Gene constraint
- LOEUF 0.338 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 95.92 · 54 PDB
- Residue 244
- the protein kinase domain; an α-helix
Disease context
PRKACA-related disorder
Similar variants
- PRKACA p.Thr66Ser Uncertain significance ★ ⚠ same condition
- PRKACA p.Gly126Ser Uncertain significance ⚠ same condition
- PRKACA c.46+10C>T Likely benign same condition
- PRKACA c.46+3338G>A Likely benign same condition
- PRKACA c.47-332G>A Benign same condition
- PRKACA p.Ile251= Likely benign same condition
- PRKACA p.Leu50= Likely benign same condition
- PRKACA p.Gly137Arg Pathogenic/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/prkaca-p-pro244 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown