R13K (p.Arg13Lys) variant of PRKCH (Protein kinase C eta type)
R13K (p.Arg13Lys) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R13K (p.Arg13Lys) variant details
- p.Arg13Lys
- gnomAD 14-61322139-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.08
- MetaSVM -0.97
- CADD 21.00
- Population evidence available
- Structural context available
- Literature evidence available