L18P (p.Leu18Pro) variant of PRKAA2 (P54646)
L18P (p.Leu18Pro) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- gnomAD 1-56645440-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.60
- MetaLR 0.14
- MetaSVM -0.90
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available