L18Q (p.Leu18Gln) variant of PRKAA2 (P54646)
L18Q (p.Leu18Gln) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L18Q (p.Leu18Gln) variant details
- p.Leu18Gln
- gnomAD 1-56645440-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.54
- MetaLR 0.18
- MetaSVM -0.74
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available