F27S (p.Phe27Ser) variant of PRKAA2 (P54646)
F27S (p.Phe27Ser) in PRKAA2 (P54646) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
F27S (p.Phe27Ser) variant details
- p.Phe27Ser
- gnomAD 1-56645465-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available