G25S (p.Gly25Ser) variant of PRKAA2 (P54646)
G25S (p.Gly25Ser) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G25S (p.Gly25Ser) variant details
- p.Gly25Ser
- ExAC rs745675639
- gnomAD rs745675639
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.94
- MetaLR 0.82
- MetaSVM 0.92
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the East Asian population (allele frequency 3.4e-05)
- Structural context available