L18L (p.Leu18Leu) variant of PRKAA2 (P54646)
L18L (p.Leu18Leu) in PRKAA2 (P54646) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- gnomAD 1-56645439-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 14.90
- Population evidence available
- Structural context available
- Literature evidence available