G14R (p.Gly14Arg) variant of PRKAA2 (P54646)
G14R (p.Gly14Arg) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- TOPMed rs966678434
- gnomAD rs966678434
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.47
- MetaLR 0.12
- MetaSVM -0.95
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available