A8V (p.Ala8Val) variant of PRKAR1A (P10644)
A8V (p.Ala8Val) 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 0.44 / 1. The record also includes published literature and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- rs2085400226
- ClinGen CA400751803
- ClinVar RCV001371600
- Ensembl rs2085400226
- Uncertain significance
- Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- AlphaMissense 0.09
- MetaLR 0.45
- MetaSVM -0.60
- PolyPhen-2 0.01
- SIFT 0.29
- MutPred 0.07
- 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)