V18L (p.Val18Leu) variant of PRKCB (Protein kinase C beta type)
V18L (p.Val18Leu) in PRKCB (Protein kinase C beta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V18L (p.Val18Leu) variant details
- p.Val18Leu
- gnomAD 16-23836227-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.82
- Population evidence available
- Structural context available
- Literature evidence available