P46H (p.Pro46His) variant of PRKAR1A (P10644)
P46H (p.Pro46His) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P46H (p.Pro46His) variant details
- p.Pro46His
- rs2085406263
- ClinGen CA400752043
- ClinVar RCV001203778
- ClinVar RCV002379772
- Uncertain significance
- Carney complex, type 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Carney complex, type 1; Hereditary cancer-predisposing syndrome)
- 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)