T40S (p.Thr40Ser) variant of PRKCB (Protein kinase C beta type)
T40S (p.Thr40Ser) in PRKCB (Protein kinase C beta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T40S (p.Thr40Ser) variant details
- p.Thr40Ser
- gnomAD 16-23836294-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available