A6T (p.Ala6Thr) variant of PRKCB (Protein kinase C beta type)
A6T (p.Ala6Thr) 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 0.48 / 1. The record also includes population frequency data and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- rs2506948286
- ClinGen CA395267085
- ClinVar RCV004210563
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available