R42L (p.Arg42Leu) variant of PRKCB (Protein kinase C beta type)
R42L (p.Arg42Leu) in PRKCB (Protein kinase C beta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R42L (p.Arg42Leu) variant details
- p.Arg42Leu
- gnomAD 16-23836300-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 31.00
- PolyPhen-2 0.78
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available