PRKAR1A p.Pro43fs
c.125dup · rs1555811735 · VCV424266
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.84 | GERP 0.99, phastCons 0.26 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- PRKAR1A
- Protein
- p.Pro43fs
- Coding
- c.125dup
- MANE Select
- NM_002734
- dbSNP
- rs1555811735
- Type
- Duplication
- Location
- chr17:68515523 (GRCh38)
- Gene constraint
- LOEUF 0.158 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 87.95 · 3 PDB
- Residue 43
- the 'dimerization and phosphorylation' region
Similar variants
- PRKAR1A p.Pro43Ser Uncertain significance ★★ ⚠ same residue
- PRKAR1A p.Pro43His Uncertain significance ★ ⚠ same residue
- PRKAR1A p.Pro43= Likely benign ★ same residue
- PRKAR1A p.Leu271fs Pathogenic ★★ same type
- PRKAR1A c.708+4dup Uncertain significance ★★ same type
- PRKAR1A c.349-5dup Benign ★★ same type
- PRKAR1A c.503-13dup Benign/Likely benign ★★ same type
- PRKAR1A p.Ala129fs 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/prkar1a-p-pro43fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown