G28V (p.Gly28Val) variant of PRKAA2 (P54646)
G28V (p.Gly28Val) 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.
G28V (p.Gly28Val) variant details
- p.Gly28Val
- gnomAD 1-56645470-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.74
- MetaLR 0.48
- MetaSVM 0.32
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available