V22F (p.Val22Phe) variant of PRKAR1A (P10644)
V22F (p.Val22Phe) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Carney complex, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
V22F (p.Val22Phe) variant details
- p.Val22Phe
- rs878854561
- ClinGen CA10583669
- ClinVar RCV000232417
- ClinVar RCV004658996
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- AlphaMissense 0.17
- MetaLR 0.34
- MetaSVM -0.58
- PolyPhen-2 0.01
- SIFT 0.27
- MutPred 0.28
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; 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)