G33R (p.Gly33Arg) variant of PRKAA2 (P54646)
G33R (p.Gly33Arg) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G33R (p.Gly33Arg) variant details
- p.Gly33Arg
- gnomAD 1-56674383-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.80
- MetaLR 0.26
- MetaSVM -0.47
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available