V11* (p.Val11Ter) variant of PRKAA2 (P54646)
V11* (p.Val11Ter) in PRKAA2 (P54646) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
V11* (p.Val11Ter) variant details
- p.Val11Ter
- gnomAD 1-56645415-CG-C
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available