E10K (p.Glu10Lys) variant of PRKAR1A (P10644)
E10K (p.Glu10Lys) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Acrodysostosis 1 with or without hormone resistance; Hereditary cancer-predispos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- rs1467886544
- ClinGen CA400751810
- ClinVar RCV001128516
- ClinVar RCV001128517
- Uncertain significance
- Acrodysostosis 1 with or without hormone resistance; Hereditary cancer-predispos
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 23.70
- PolyPhen-2 0.20
- SIFT 0.03
- ClinVar: Uncertain significance (Acrodysostosis 1 with or without hormone resistance; Hereditary)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- 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)