G25S (p.Gly25Ser) variant of PRKAA1 (Q13131)
G25S (p.Gly25Ser) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G25S (p.Gly25Ser) variant details
- p.Gly25Ser
- ExAC rs759922711
- TOPMed rs759922711
- gnomAD rs759922711
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.27
- MetaLR 0.07
- MetaSVM -1.11
- CADD 27.80
- PolyPhen-2 0.65
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available