T54A (p.Thr54Ala) variant of PRKCB (Protein kinase C beta type)
T54A (p.Thr54Ala) in PRKCB (Protein kinase C beta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
T54A (p.Thr54Ala) variant details
- p.Thr54Ala
- gnomAD 16-23836335-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 25.10
- PolyPhen-2 0.56
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available