PRKAR2B p.Val296=
c.888A>G · rs77265974 · VCV782271
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.362%, 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 0.78 | GERP -5.9, phastCons 0.99 |
| Overall | ||
| CADD | 5.274 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.362%
African / African-American · 271/74,858 alleles
Filtering AF
0.327%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.313%
Overall
0.0196%
315/1,609,514 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.362% | 276 |
| Admixed American | 0.0403% | 2,481 |
| Middle Eastern | 0.0331% | 3,021 |
| Remaining individualsnot grpmax-eligible | 0.0225% | 4,452 |
| South Asian | 0.00111% | 89,974 |
| European (non-Finnish) | 0.000255% | 392,623 |
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
- PRKAR2B
- Protein
- p.Val296=
- Coding
- c.888A>G
- MANE Select
- NM_002736
- dbSNP
- rs77265974
- Type
- single nucleotide variant
- Location
- chr7:107153221 (GRCh38)
- Gene constraint
- LOEUF 0.658 · pLI 0.54 (gnomAD)
- Structure
- AlphaFold pLDDT 79.37
- Residue 296
- a binding site
Similar variants
- PRKAR2B p.Val296Leu Uncertain significance ★ ⚠ same residue
- PRKAR2B p.Ile396= Benign ★★ same type
- PRKAR2B c.307+1G>A Uncertain significance ★ same type
- PRKAR2B p.Arg218His Uncertain significance ★ ⚠ same type
- PRKAR2B p.Asn143Tyr Uncertain significance ★ ⚠ same type
- PRKAR2B p.Asn229Asp Uncertain significance ★ ⚠ same type
- PRKAR2B p.Asn229Ser Uncertain significance ★ ⚠ same type
- PRKAR2B p.Asn75Ser 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/prkar2b-p-val296 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown