A6V (p.Ala6Val) variant of PRKCB (Protein kinase C beta type)
A6V (p.Ala6Val) in PRKCB (Protein kinase C beta type) is a missense change. Clinical records from ClinVar 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 0.49 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- gnomAD rs1269979183
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available