G28A (p.Gly28Ala) variant of PRKAA2 (P54646)
G28A (p.Gly28Ala) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G28A (p.Gly28Ala) variant details
- p.Gly28Ala
- gnomAD 1-56645470-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.55
- MetaLR 0.23
- MetaSVM -0.64
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available