G14E (p.Gly14Glu) variant of PRKAA2 (P54646)
G14E (p.Gly14Glu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G14E (p.Gly14Glu) variant details
- p.Gly14Glu
- gnomAD 1-56645428-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.46
- MetaLR 0.10
- MetaSVM -0.96
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available