G33V (p.Gly33Val) variant of PRKAA2 (P54646)
G33V (p.Gly33Val) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G33V (p.Gly33Val) variant details
- p.Gly33Val
- gnomAD 1-56674384-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.72
- MetaLR 0.13
- MetaSVM -0.98
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available