L18M (p.Leu18Met) variant of PRKAA2 (P54646)
L18M (p.Leu18Met) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- gnomAD 1-56645439-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.23
- MetaLR 0.14
- MetaSVM -0.99
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available