K4S (p.Lys4Ser) variant of PRKAA2 (P54646)
K4S (p.Lys4Ser) in PRKAA2 (P54646) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
K4S (p.Lys4Ser) variant details
- p.Lys4Ser
- gnomAD 1-56645396-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.7
- CADD 27.20
- Population evidence available
- Structural context available
- Literature evidence available