E14V (p.Glu14Val) variant of PRKCB (Protein kinase C beta type)
E14V (p.Glu14Val) in PRKCB (Protein kinase C beta type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
E14V (p.Glu14Val) variant details
- p.Glu14Val
- rs1243136292
- ClinGen CA395267135
- ClinVar RCV004077074
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.06
- MetaLR 0.19
- MetaSVM -0.85
- PolyPhen-2 0.00
- SIFT 0.05
- MutPred 0.22
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available