R10G (p.Arg10Gly) variant of PRKAA2 (P54646)
R10G (p.Arg10Gly) in PRKAA2 (P54646) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R10G (p.Arg10Gly) variant details
- p.Arg10Gly
- gnomAD 1-56645411-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 29.60
- Population evidence available
- Structural context available
- Literature evidence available