K36N (p.Lys36Asn) variant of PRKCH (Protein kinase C eta type)
K36N (p.Lys36Asn) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K36N (p.Lys36Asn) variant details
- p.Lys36Asn
- gnomAD 14-61327127-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.50
- MetaSVM -0.13
- CADD 15.34
- Population evidence available
- Structural context available
- Literature evidence available