D36N (p.Asp36Asn) variant of PRKCA (Protein kinase C alpha type)
D36N (p.Asp36Asn) in PRKCA (Protein kinase C alpha 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 0.28 / 1. The record also includes population frequency data and structural context.
D36N (p.Asp36Asn) variant details
- p.Asp36Asn
- rs2509256085
- ClinGen CA400679952
- ClinVar RCV004333845
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.21
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available