S100N (p.Ser100Asn) variant of PRKCA (Protein kinase C alpha type)
S100N (p.Ser100Asn) in PRKCA (Protein kinase C alpha type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S100N (p.Ser100Asn) variant details
- p.Ser100Asn
- ExAC rs762002113
- gnomAD rs762002113
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.39
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.40
- Population evidence available
- Structural context available