E52D (p.Glu52Asp) variant of PRKAR1A (P10644)
E52D (p.Glu52Asp) in PRKAR1A (P10644) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
E52D (p.Glu52Asp) variant details
- p.Glu52Asp
- gnomAD 17-68515555-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 7.18
- PolyPhen-2 0.02
- SIFT 0.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available