V22G (p.Val22Gly) variant of PRKAR1A (P10644)
V22G (p.Val22Gly) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carney complex, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
V22G (p.Val22Gly) variant details
- p.Val22Gly
- rs2085402151
- ClinGen CA400751893
- ClinVar RCV001304701
- TOPMed rs2085402151
- Uncertain significance
- Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- AlphaMissense 0.94
- MetaLR 0.63
- MetaSVM 0.43
- PolyPhen-2 0.84
- SIFT 0.00
- MutPred 0.52
- ClinVar: Uncertain significance (Carney complex, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Carney Complex. (PMID 20301463)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)