Q37P (p.Gln37Pro) variant of PRKAR1A (P10644)
Q37P (p.Gln37Pro) 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 population frequency data, published literature, and structural context.
Q37P (p.Gln37Pro) variant details
- p.Gln37Pro
- rs2143151932
- ClinGen CA400751986
- ClinVar RCV001883158
- Ensembl rs2143151932
- Uncertain significance
- Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 28.20
- PolyPhen-2 0.74
- SIFT 0.05
- ClinVar: Uncertain significance (Carney complex, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)