K31R (p.Lys31Arg) variant of PRKAA2 (P54646)
K31R (p.Lys31Arg) in PRKAA2 (P54646) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
K31R (p.Lys31Arg) variant details
- p.Lys31Arg
- gnomAD 1-56645477-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available