A2P (p.Ala2Pro) variant of PRKCB (Protein kinase C beta type)
A2P (p.Ala2Pro) in PRKCB (Protein kinase C beta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- gnomAD 16-23836179-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- CADD 24.90
- PolyPhen-2 0.09
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available