Q5E (p.Gln5Glu) variant of PRKAA2 (P54646)
Q5E (p.Gln5Glu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q5E (p.Gln5Glu) variant details
- p.Gln5Glu
- gnomAD rs1480741512
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.11
- MetaLR 0.16
- MetaSVM -0.91
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available