E44A (p.Glu44Ala) variant of PRKAR1A (P10644)
E44A (p.Glu44Ala) in PRKAR1A (P10644) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E44A (p.Glu44Ala) variant details
- p.Glu44Ala
- gnomAD 17-68515530-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available